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.1589G>A (p.Arg530His)	RYR1	Likely pathogenic	19	38946103	38946103	G	A	reviewed by expert panel	ClinGen:CA024291,UniProtKB:P21817#VAR_058563
single nucleotide variant	NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)	RYR1	Likely pathogenic	19	38946129	38946129	T	C	reviewed by expert panel	ClinGen:CA024297
Duplication	NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)	RYR1	Pathogenic	19	38946337	38946338	G	GAATC	criteria provided, single submitter	ClinGen:CA024307,OMIM:180901.0032
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.1841G>A (p.Arg614His)	RYR1	Likely pathogenic	19	38948186	38948186	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer)	RYR1	Pathogenic	19	38948220	38948224	TGCCTG	T	criteria provided, single submitter	ClinGen:CA205848
single nucleotide variant	NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg)	RYR1	Likely pathogenic	19	38948246	38948246	C	G	criteria provided, single submitter	ClinGen:CA405694267
single nucleotide variant	NM_000540.3(RYR1):c.1982G>A (p.Trp661Ter)	RYR1	Pathogenic	19	38948747	38948747	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln)	RYR1	Likely pathogenic	19	38948755	38948755	G	C	criteria provided, single submitter	ClinGen:CA405695800
Deletion	NM_000540.3(RYR1):c.1993del (p.Glu664_Val665insTer)	RYR1	Likely pathogenic	19	38948757	38948757	AG	A	criteria provided, single submitter	-