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Gene: SGCA & Disease: Qualitative or Quantitative Defects of Sarcoglycan, 82 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9437	SGCA	c.229C>T	p.Arg77Cys (p.R77C)	NM_000023.4 M	SNV	P	3 +	23
9437	SGCA	c.229C>T	p.Arg77Cys (p.R77C)	NM_001135697.3	SNV	P	3 +	23
167677	SGCA	c.739G>A	p.Val247Met (p.V247M)	NM_000023.4 M	SNV	P	4 +	21
167677	SGCA	c.584+674G>A	--	NM_001135697.3	SNV	P	4 +	21
9439	SGCA	c.850C>T	p.Arg284Cys (p.R284C)	NM_000023.4 M	SNV	P	4 +	12
9439	SGCA	c.585-395C>T	--	NM_001135697.3	SNV	P	4 +	12
254721	SGCA	c.662G>A	p.Arg221His (p.R221H)	NM_000023.4 M	SNV	LB	3 +	5
197618	SGCA	c.421C>A	p.Arg141Ser (p.R141S)	NM_000023.4 M	SNV	LB	3 +	5
254721	SGCA	c.584+597G>A	--	NM_001135697.3	SNV	LB	3 +	5
197618	SGCA	c.421C>A	p.Arg141Ser (p.R141S)	NM_001135697.3	SNV	LB	3 +	5
284685	SGCA	c.307A>G	p.Ile103Val (p.I103V)	NM_000023.4 M	SNV	LP	3 +	4
284685	SGCA	c.307A>G	p.Ile103Val (p.I103V)	NM_001135697.3	SNV	LP	3 +	4
198033	SGCA	c.680C>G	p.Pro227Arg (p.P227R)	NM_000023.4 M	SNV	LB	3 +	3
198033	SGCA	c.584+615C>G	--	NM_001135697.3	SNV	LB	3 +	3
657550	SGCA	c.312+5C>T	--	NM_000023.4 M	SNV	VUS	3 +	2
92303	SGCA	c.328C>T	p.Arg110Trp (p.R110W)	NM_000023.4 M	SNV	LB	4 +	2
889019	SGCA	c.488G>C	p.Gly163Ala (p.G163A)	NM_000023.4 M	SNV	VUS	3 +	2
284945	SGCA	c.402C>G	p.Tyr134Ter (p.Y134X)	NM_000023.4 M	SNV	P	3 +	2
891267	SGCA	c.1051C>T	p.Arg351Cys (p.R351C)	NM_000023.4 M	SNV	VUS	3 +	2
324045	SGCA	c.1063C>T	p.Arg355Trp (p.R355W)	NM_000023.4 M	SNV	VUS	3 +	2

82 Results, 20 per Page

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