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.4113+1G>A	CACNA1S	Likely pathogenic	1	201020111	201020111	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201058386	201058386	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter)	CACNA1S	Likely pathogenic	1	201052414	201052414	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000069.3(CACNA1S):c.4113+1G>C	CACNA1S	Likely pathogenic	1	201020111	201020111	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000069.3(CACNA1S):c.1796del (p.Asn599fs)	CACNA1S	Pathogenic	1	201046079	201046079	GT	G	criteria provided, single submitter	-
Deletion	NM_000069.3(CACNA1S):c.564del (p.Ile189fs)	CACNA1S	Pathogenic	1	201060898	201060898	TG	T	criteria provided, single submitter	ClinGen:CA658795585
Deletion	NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs)	CACNA1S	Likely pathogenic	1	201020187	201020187	CT	C	criteria provided, single submitter	ClinGen:CA658795583
single nucleotide variant	NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201061139	201061139	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA35996896
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.1503C>A (p.Cys501Ter)	CACNA1S	Pathogenic	1	201047123	201047123	G	T	criteria provided, single submitter	ClinGen:CA344121959