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
Duplication	NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)	RYR1	Pathogenic/Likely pathogenic	19	39058422	39058423	T	TGGGGAGA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.7836-1G>A	RYR1	Likely pathogenic	19	38993519	38993519	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	RYR1	Pathogenic	19	38933031	38933031	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000540.3(RYR1):c.7215del (p.Phe2406fs)	RYR1	Pathogenic	19	38990548	38990548	GC	G	criteria provided, single submitter	-
Deletion	NM_000069.3(CACNA1S):c.1796del (p.Asn599fs)	CACNA1S	Pathogenic	1	201046079	201046079	GT	G	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	-
single nucleotide variant	NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)	STAC3	Pathogenic	12	57638387	57638387	G	A	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.1218del (p.Asn407fs)	RYR1	Pathogenic	19	38942498	38942498	AC	A	criteria provided, single submitter	-
Duplication	NM_000540.3(RYR1):c.4455_4459dup (p.Lys1487fs)	RYR1	Pathogenic	19	38969074	38969075	G	GCCTCA	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.13295del (p.Gly4432fs)	RYR1	Pathogenic	19	39056267	39056267	CG	C	criteria provided, single submitter	-