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.38T>G (p.Leu13Arg)	RYR1	Likely pathogenic	19	38924507	38924507	T	G	reviewed by expert panel	UniProtKB:P21817#VAR_058560,ClinGen:CA024414
single nucleotide variant	NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)	RYR1	Likely pathogenic	19	38931436	38931436	A	G	reviewed by expert panel	ClinGen:CA025005,OMIM:180901.0038
single nucleotide variant	NM_000540.3(RYR1):c.163C>T (p.Gln55Ter)	RYR1	Pathogenic	19	38931502	38931502	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	RYR1	Pathogenic	19	38933031	38933031	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.223C>T (p.Arg75Ter)	RYR1	Pathogenic	19	38933046	38933046	C	T	criteria provided, single submitter	ClinGen:CA405674145
single nucleotide variant	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1	Pathogenic/Likely pathogenic	19	38934252	38934252	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024392,UniProtKB:P21817#VAR_032910,OMIM:180901.0026
single nucleotide variant	NM_000540.3(RYR1):c.463C>A (p.Gln155Lys)	RYR1	Likely pathogenic	19	38934827	38934827	C	A	reviewed by expert panel	ClinGen:CA024451
single nucleotide variant	NM_000540.3(RYR1):c.529C>T (p.Arg177Cys)	RYR1	Pathogenic	19	38934893	38934893	C	T	reviewed by expert panel	ClinGen:CA024503,UniProtKB:P21817#VAR_045700
single nucleotide variant	NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)	RYR1	Likely pathogenic	19	38937350	38937350	G	A	reviewed by expert panel	ClinGen:CA024797,UniProtKB:P21817#VAR_005591,OMIM:180901.0002
single nucleotide variant	NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)	RYR1	Pathogenic	19	38937350	38937350	G	C	reviewed by expert panel	ClinGen:CA024799,UniProtKB:P21817#VAR_005591