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.13912G>A (p.Gly4638Ser)	RYR1	Likely pathogenic	19	39062824	39062824	G	A	criteria provided, single submitter	ClinGen:CA024082
single nucleotide variant	NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)	RYR1	Pathogenic	19	39075632	39075632	G	A	criteria provided, single submitter	ClinGen:CA024237,UniProtKB:P21817#VAR_045772
single nucleotide variant	NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)	RYR1	Pathogenic	19	39062864	39062864	A	C	criteria provided, single submitter	ClinGen:CA024093,UniProtKB:P21817#VAR_045745
single nucleotide variant	NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)	RYR1	Likely pathogenic	19	39075595	39075595	C	T	criteria provided, single submitter	ClinGen:CA024212
single nucleotide variant	NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)	RYR1	Likely pathogenic	19	38991280	38991280	T	C	reviewed by expert panel	ClinGen:CA024775
single nucleotide variant	NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)	RYR1	Likely pathogenic	19	39062861	39062861	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA024091,UniProtKB:P21817#VAR_045744
single nucleotide variant	NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	RYR1	Likely pathogenic	19	38991538	38991538	C	T	reviewed by expert panel	ClinGen:CA024819,UniProtKB:P21817#VAR_075399,OMIM:180901.0043
single nucleotide variant	NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)	RYR1	Pathogenic	19	38997592	38997592	G	A	criteria provided, single submitter	ClinGen:CA024952
single nucleotide variant	NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)	RYR1	Pathogenic	19	39070730	39070730	C	T	criteria provided, single submitter	ClinGen:CA024150,UniProtKB:P21817#VAR_045755
single nucleotide variant	NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	RYR1	Pathogenic/Likely pathogenic	19	39075613	39075613	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024220,UniProtKB:P21817#VAR_045769