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.1847G>A (p.Trp616Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201044724	201044724	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201039491	201039491	G	A	criteria provided, multiple submitters, no conflicts	-
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.2690G>A (p.Arg897Lys)	CACNA1S	Pathogenic	1	201035412	201035412	C	T	criteria provided, single submitter	ClinGen:CA344102557
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
Deletion	NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)	CACNA1S	Pathogenic/Likely pathogenic	1	201035007	201035007	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.2854-2A>C	CACNA1S	Likely pathogenic	1	201031644	201031644	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)	CACNA1S	Pathogenic	1	201031155	201031155	C	T	criteria provided, single submitter	-
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.3525+1G>A	CACNA1S	Likely pathogenic	1	201028316	201028316	C	T	criteria provided, single submitter	-