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.502C>T (p.Arg168Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201061139	201061139	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA35996896
Indel	NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG	RYR1	Pathogenic/Likely pathogenic	19	38998464	38998471	CTGGGTAC	AAGCGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799210
single nucleotide variant	NM_000540.3(RYR1):c.6274+1G>A	RYR1	Pathogenic/Likely pathogenic	19	38983277	38983277	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA405662693
single nucleotide variant	NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	RYR1	Pathogenic/Likely pathogenic	19	39076607	39076607	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA405692312
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
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
Deletion	NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs)	RYR1	Pathogenic/Likely pathogenic	19	39018324	39018325	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373266
single nucleotide variant	NM_000540.3(RYR1):c.6127+1G>A	RYR1	Pathogenic/Likely pathogenic	19	38981373	38981373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA405660953
single nucleotide variant	NM_000540.3(RYR1):c.2870+1G>A	RYR1	Pathogenic/Likely pathogenic	19	38955363	38955363	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA064115
single nucleotide variant	NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)	STAC3	Pathogenic/Likely pathogenic	12	57638005	57638005	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6646959,OMIM:615521.0002