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.2870+1G>A	RYR1	Pathogenic/Likely pathogenic	19	38955363	38955363	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA064115
single nucleotide variant	NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	RYR1	Pathogenic/Likely pathogenic	19	38956844	38956844	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter)	RYR1	Pathogenic	19	38956849	38956849	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter)	RYR1	Likely pathogenic	19	38956906	38956906	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000540.3(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup)	RYR1	Likely pathogenic	19	38958305	38958306	A	ATCCTAT	criteria provided, single submitter	ClinGen:CA207670
single nucleotide variant	NM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser)	RYR1	Likely pathogenic	19	38958324	38958324	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)	RYR1	Likely pathogenic	19	38958362	38958362	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)	RYR1	Pathogenic/Likely pathogenic	19	38958433	38958433	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA064719
single nucleotide variant	NM_000540.3(RYR1):c.3381+1G>A	RYR1	Pathogenic	19	38958453	38958453	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA209427