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Gene: SEC63 & Disease: PCLD2, 175 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
354899	SEC63	c.1697AAG[2]	p.Glu568Del (p.E568del)	NM_007214.5 M	MS	P	2 +	3
2169	SEC63	c.733+1G>A	--	NM_007214.5 M	SNV	P	1 +	2
1448518	SEC63	c.1188_1191dup	p.Val398fs (p.V398fs)	NM_007214.5 M	Dup	P	1 +	2
1514071	SEC63	c.452+3A>G	--	NM_007214.5 M	SNV	VUS	1 +	2
2167	SEC63	c.173G>A	p.Trp58Ter (p.W58X)	NM_007214.5 M	SNV	P	1 +	1
2168	SEC63	c.442_443insA	p.Ala148fs (p.A148fs)	NM_007214.5 M	Ins	P	1 +	1
1255633	SEC63	c.292C>T	p.Arg98Ter (p.R98X)	NM_007214.5 M	SNV	P	3 +	1
905039	SEC63	c.452C>T	p.Ala151Val (p.A151V)	NM_007214.5 M	SNV	VUS	1 +	1
260153	SEC63	c.2027C>T	p.Thr676Ile (p.T676I)	NM_007214.5 M	SNV	LB	1 +	0
1048655	SEC63	c.1023C>A	p.Cys341Ter (p.C341X)	NM_007214.5 M	SNV	P	1 +	0
194646	SEC63	c.1605dup	p.Pro536fs (p.P536fs)	NM_007214.5 M	Dup	P	1 +	0
931942	SEC63	c.286dup	p.Thr96fs (p.T96fs)	NM_007214.5 M	Dup	VUS	1 +	0
768106	SEC63	c.1936-11_1936-9del	--	NM_007214.5 M	Del	LB	1 +	0
907404	SEC63	c.*3133C>A	--	NM_007214.5 M	SNV	VUS	1 +	0
907405	SEC63	c.*3116T>C	--	NM_007214.5 M	SNV	VUS	1 +	0
1255569	SEC63	c.2026A>G	p.Thr676Ala (p.T676A)	NM_007214.5 M	SNV	VUS	3 +	0
1646738	SEC63	c.453-11T>C	--	NM_007214.5 M	SNV	LB	1 +	0
1255587	SEC63	c.1895C>A	p.Ser632Ter (p.S632X)	NM_007214.5 M	SNV	P	3 +	0
907456	SEC63	c.*2041A>G	--	NM_007214.5 M	SNV	VUS	1 +	0
907457	SEC63	c.*1931A>C	--	NM_007214.5 M	SNV	VUS	1 +	0

175 Results, 20 per Page

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