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_000540.3(RYR1):c.13898T>A (p.Leu4633Gln)	RYR1	Likely pathogenic	19	39062810	39062810	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.14585A>C (p.Lys4862Thr)	RYR1	Pathogenic	19	39071083	39071083	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.1440+1G>A	RYR1	Likely pathogenic	19	38943655	38943655	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)	RYR1	Likely pathogenic	19	38990323	38990323	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000540.3(RYR1):c.12822C>T (p.Gly4274=)	RYR1	Pathogenic	19	39055796	39055796	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)	RYR1	Pathogenic	19	38943556	38943556	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.10937+1G>A	RYR1	Likely pathogenic	19	39019059	39019059	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.7210G>T (p.Glu2404Ter)	RYR1	Pathogenic	19	38990457	38990457	G	T	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.10162del (p.Gln3388fs)	RYR1	Pathogenic	19	39009995	39009995	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.13534G>T (p.Glu4512Ter)	RYR1	Pathogenic	19	39058432	39058432	G	T	criteria provided, single submitter	-