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.10627-1G>C	RYR1	Pathogenic/Likely pathogenic	19	39017632	39017632	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.1982G>A (p.Trp661Ter)	RYR1	Pathogenic	19	38948747	38948747	G	A	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.1993del (p.Glu664_Val665insTer)	RYR1	Likely pathogenic	19	38948757	38948757	AG	A	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.2195del (p.Pro732fs)	RYR1	Likely pathogenic	19	38949810	38949810	TC	T	criteria provided, single submitter	-
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	-
Deletion	NM_000540.3(RYR1):c.3805del (p.Leu1269fs)	RYR1	Likely pathogenic	19	38964055	38964055	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.4707+1G>A	RYR1	Likely pathogenic	19	38973754	38973754	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.4789C>T (p.Gln1597Ter)	RYR1	Likely pathogenic	19	38974011	38974011	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)	RYR1	Likely pathogenic	19	38990307	38990307	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000540.3(RYR1):c.7123G>A (p.Gly2375Arg)	RYR1	Likely pathogenic	19	38990370	38990370	G	A	reviewed by expert panel	-