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.3801dup (p.Cys1268fs)	RYR1	Pathogenic/Likely pathogenic	19	38964046	38964047	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA233323
Duplication	NM_000540.3(RYR1):c.4094dup (p.Glu1366fs)	RYR1	Pathogenic	19	38964339	38964340	C	CG	criteria provided, single submitter	ClinGen:CA233326
single nucleotide variant	NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)	RYR1	Pathogenic	19	38966022	38966022	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024435
single nucleotide variant	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1	Pathogenic/Likely pathogenic	19	38987106	38987106	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:424825,ClinGen:CA024643,OMIM:180901.0039
single nucleotide variant	NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser)	RYR1	Likely pathogenic	19	38948884	38948884	G	A	criteria provided, single submitter	ClinGen:CA024327
single nucleotide variant	NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	RYR1	Pathogenic/Likely pathogenic	19	39034060	39034060	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023934
Deletion	NM_000540.3(RYR1):c.4076del (p.Gly1359fs)	RYR1	Pathogenic	19	38964323	38964323	CG	C	criteria provided, single submitter	ClinGen:CA024421
Deletion	NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs)	RYR1	Pathogenic/Likely pathogenic	19	38991475	38991487	GCAGCCAAAGATGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA024801
single nucleotide variant	NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	RYR1	Pathogenic/Likely pathogenic	19	39051969	39051969	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023986
single nucleotide variant	NM_000540.3(RYR1):c.12612G>A (p.Trp4204Ter)	RYR1	Pathogenic	19	39052082	39052082	G	A	criteria provided, single submitter	ClinGen:CA023988