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.7373G>T (p.Arg2458Leu)	RYR1	Likely pathogenic	19	38991295	38991295	G	T	reviewed by expert panel	-
single nucleotide variant	NM_000540.3(RYR1):c.7543C>T (p.Gln2515Ter)	RYR1	Likely pathogenic	19	38991559	38991559	C	T	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.8018del (p.His2673fs)	RYR1	Likely pathogenic	19	38994951	38994951	CA	C	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	RYR1	Pathogenic	19	38995979	38995980	CAT	C	criteria provided, multiple submitters, no conflicts	ClinVar:2627379,OMIM:180901.0037
single nucleotide variant	NM_000540.3(RYR1):c.8693-1G>A	RYR1	Likely pathogenic	19	38997468	38997468	G	A	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	-
Duplication	NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)	RYR1	Pathogenic/Likely pathogenic	19	39016011	39016012	C	CG	criteria provided, multiple submitters, no conflicts	-
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.11320dup (p.Ala3774fs)	RYR1	Pathogenic/Likely pathogenic	19	39025414	39025415	C	CG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000540.3(RYR1):c.11360-1_11374del	RYR1	Likely pathogenic	19	39025777	39025792	TCCAGGAGAGACAGGTG	T	criteria provided, single submitter	-