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Gene: HMGCS2 & Disease: 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency, 385 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2194069	HMGCS2	c.726C>G	p.Tyr242Ter (p.Y242X)	NM_005518.4 M	SNV	P	2 +	6
2194069	HMGCS2	c.600C>G	p.Tyr200Ter (p.Y200X)	NM_001166107.1	SNV	P	2 +	6
9257	HMGCS2	c.520T>C	p.Phe174Leu (p.F174L)	NM_005518.4 M	SNV	P	2 +	5
9259	HMGCS2	c.634G>A	p.Gly212Arg (p.G212R)	NM_005518.4 M	SNV	P	2 +	5
9258	HMGCS2	c.1270C>T	p.Arg424Ter (p.R424X)	NM_005518.4 M	SNV	P	2 +	5
1453176	HMGCS2	c.1016+1G>A	--	NM_005518.4 M	SNV	P	2 +	5
280473	HMGCS2	c.862C>T	p.Arg288Ter (p.R288X)	NM_005518.4 M	SNV	P	2 +	5
9257	HMGCS2	c.520T>C	p.Phe174Leu (p.F174L)	NM_001166107.1	SNV	P	2 +	5
9259	HMGCS2	c.560-633G>A	--	NM_001166107.1	SNV	P	2 +	5
9258	HMGCS2	c.1144C>T	p.Arg382Ter (p.R382X)	NM_001166107.1	SNV	P	2 +	5
1453176	HMGCS2	c.890+1G>A	--	NM_001166107.1	SNV	P	2 +	5
280473	HMGCS2	c.736C>T	p.Arg246Ter (p.R246X)	NM_001166107.1	SNV	P	2 +	5
644135	HMGCS2	c.850+2T>C	--	NM_005518.4 M	SNV	P	2 +	4
859738	HMGCS2	c.559+1G>A	--	NM_005518.4 M	SNV	P	2 +	4
1327465	HMGCS2	c.1394del	p.Asn465fs (p.N465fs)	NM_005518.4 M	Del	P	2 +	4
1327465	HMGCS2	c.1394delA	--	NM_005518.4 M	Del	P	2 +	4
644135	HMGCS2	c.724+2T>C	--	NM_001166107.1	SNV	P	2 +	4
859738	HMGCS2	c.559+1G>A	--	NM_001166107.1	SNV	P	2 +	4
1327465	HMGCS2	c.1268del	p.Asn423fs (p.N423fs)	NM_001166107.1	Del	P	2 +	4
452101	HMGCS2	c.1502G>C	p.Arg501Pro (p.R501P)	NM_005518.4 M	SNV	P	2 +	3

385 Results, 20 per Page

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