悪性高熱症 - MGenReviews

悪性高熱症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)	CACNA1S	Likely pathogenic	1	201047043	201047043	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA35978916
single nucleotide variant	NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201035395	201035395	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617039
single nucleotide variant	NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)	CACNA1S	Likely pathogenic	1	201029944	201029944	G	T	criteria provided, single submitter	ClinGen:CA004036
single nucleotide variant	NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)	CACNA1S	Likely pathogenic	1	201036045	201036045	A	T	criteria provided, single submitter	ClinGen:CA004028,OMIM:114208.0009
single nucleotide variant	NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	CACNA1S	Pathogenic	1	201047043	201047043	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004021,UniProtKB:Q13698#VAR_001499,OMIM:114208.0003
single nucleotide variant	NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)	CACNA1S	Pathogenic	1	201022667	201022667	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004048,UniProtKB:Q13698#VAR_001501,OMIM:114208.0002
single nucleotide variant	NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	CACNA1S	Pathogenic	1	201022666	201022666	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004054,UniProtKB:Q13698#VAR_001502,OMIM:114208.0001