悪性高熱症 - MGenReviews

悪性高熱症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.13903G>A (p.Glu4635Lys)	RYR1	Pathogenic	19	39062815	39062815	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA405680955
Duplication	NM_000540.3(RYR1):c.14392dup (p.Val4798fs)	RYR1	Pathogenic	19	39070647	39070648	T	TG	criteria provided, single submitter	ClinGen:CA658658813
single nucleotide variant	NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	RYR1	Pathogenic/Likely pathogenic	19	39076607	39076607	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA405692312
single nucleotide variant	NM_000540.3(RYR1):c.3688C>T (p.Gln1230Ter)	RYR1	Pathogenic	19	38960076	38960076	C	T	criteria provided, single submitter	ClinGen:CA405639626
single nucleotide variant	NM_000540.3(RYR1):c.4294-2A>G	RYR1	Likely pathogenic	19	38968348	38968348	A	G	criteria provided, single submitter	ClinGen:CA405645610
single nucleotide variant	NM_000540.3(RYR1):c.7926+2T>C	RYR1	Likely pathogenic	19	38993612	38993612	T	C	criteria provided, single submitter	ClinGen:CA405674336
single nucleotide variant	NM_000540.3(RYR1):c.4934G>T (p.Arg1645Leu)	RYR1	Likely pathogenic	19	38974156	38974156	G	T	criteria provided, single submitter	ClinGen:CA405651125
single nucleotide variant	NM_000540.3(RYR1):c.6274+1G>A	RYR1	Pathogenic/Likely pathogenic	19	38983277	38983277	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA405662693
single nucleotide variant	NM_000540.3(RYR1):c.7237G>T (p.Glu2413Ter)	RYR1	Pathogenic	19	38990570	38990570	G	T	criteria provided, single submitter	ClinGen:CA405669155
single nucleotide variant	NM_000540.3(RYR1):c.10922T>C (p.Leu3641Pro)	RYR1	Likely pathogenic	19	39019043	39019043	T	C	criteria provided, single submitter	ClinGen:CA405649640