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.9847C>T (p.Arg3283Ter)	RYR1	Pathogenic	19	39008160	39008160	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA074223
Deletion	NM_000540.3(RYR1):c.10749_10753del (p.Glu3584fs)	RYR1	Pathogenic/Likely pathogenic	19	39018349	39018353	AGGAGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA633066929
Deletion	NM_000540.3(RYR1):c.12110del (p.Gly4037fs)	RYR1	Pathogenic/Likely pathogenic	19	39038887	39038887	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799214
single nucleotide variant	NM_000540.3(RYR1):c.12613G>T (p.Glu4205Ter)	RYR1	Pathogenic	19	39052083	39052083	G	T	criteria provided, single submitter	ClinGen:CA405669925
Deletion	NM_000069.3(CACNA1S):c.564del (p.Ile189fs)	CACNA1S	Pathogenic	1	201060898	201060898	TG	T	criteria provided, single submitter	ClinGen:CA658795585
Duplication	NC_000019.9:g.(?_39013648)_(39028620_?)dup	RYR1	Likely pathogenic	19	39013648	39028620	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.1840C>G (p.Arg614Gly)	RYR1	Likely pathogenic	19	38948185	38948185	C	G	criteria provided, single submitter	ClinGen:CA405693889
single nucleotide variant	NM_000540.3(RYR1):c.5218G>T (p.Glu1740Ter)	RYR1	Pathogenic	19	38976513	38976513	G	T	criteria provided, single submitter	ClinGen:CA405654199
single nucleotide variant	NM_000540.3(RYR1):c.5509C>T (p.Gln1837Ter)	RYR1	Pathogenic	19	38976804	38976804	C	T	criteria provided, single submitter	ClinGen:CA405655850
Deletion	NM_000540.3(RYR1):c.13335del (p.Phe4446fs)	RYR1	Pathogenic	19	39056306	39056306	GC	G	criteria provided, single submitter	ClinGen:CA658799216