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.11320del (p.Ala3774fs)	RYR1	Pathogenic/Likely pathogenic	19	39025415	39025415	CG	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)	RYR1	Pathogenic/Likely pathogenic	19	39016011	39016012	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.9001-2A>G	RYR1	Pathogenic/Likely pathogenic	19	39001298	39001298	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.10627-1G>C	RYR1	Pathogenic/Likely pathogenic	19	39017632	39017632	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)	RYR1	Pathogenic/Likely pathogenic	19	39058422	39058423	T	TGGGGAGA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.12727G>A (p.Glu4243Lys)	RYR1	Pathogenic/Likely pathogenic	19	39055701	39055701	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA405671017
single nucleotide variant	NM_000540.3(RYR1):c.6664-2A>G	RYR1	Pathogenic/Likely pathogenic	19	38987047	38987047	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA405666150
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
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.5115_5122del (p.Leu1706fs)	RYR1	Pathogenic/Likely pathogenic	19	38976410	38976417	CACTGCGCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA633066586