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
Deletion	NM_000540.3(RYR1):c.2706del (p.His903fs)	RYR1	Likely pathogenic	19	38954410	38954410	TG	T	criteria provided, single submitter	ClinGen:CA063863
single nucleotide variant	NM_000540.3(RYR1):c.9472+1G>A	RYR1	Likely pathogenic	19	39003124	39003124	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA073621
Deletion	NM_000540.3(RYR1):c.12319del (p.Ile4107fs)	RYR1	Pathogenic/Likely pathogenic	19	39051787	39051787	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA058697
single nucleotide variant	NM_000540.3(RYR1):c.14129+1G>A	RYR1	Likely pathogenic	19	39063948	39063948	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA060836
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.1503C>A (p.Cys501Ter)	CACNA1S	Pathogenic	1	201047123	201047123	G	T	criteria provided, single submitter	ClinGen:CA344121959
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
Deletion	NM_145064.3(STAC3):c.383_399del (p.His128fs)	STAC3	Pathogenic	12	57642522	57642538	AGGACTGACAGTGTTCAT	A	criteria provided, single submitter	ClinGen:CA658656298
Duplication	NM_000540.3(RYR1):c.8136dup (p.Asp2713fs)	RYR1	Pathogenic/Likely pathogenic	19	38995450	38995451	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA071528
single nucleotide variant	NM_000540.3(RYR1):c.9047A>G (p.Tyr3016Cys)	RYR1	Pathogenic	19	39001346	39001346	A	G	criteria provided, single submitter	ClinGen:CA405683726