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.13919T>G (p.Met4640Arg)	RYR1	Pathogenic/Likely pathogenic	19	39062831	39062831	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.14173-2A>G	RYR1	Pathogenic/Likely pathogenic	19	39068556	39068556	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000540.3(RYR1):c.14545_14571dup (p.Val4849_Phe4857dup)	RYR1	Likely pathogenic	19	39071040	39071041	G	GTCGTCTACCTGTACACCGTGGTGGCCT	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg)	RYR1	Pathogenic/Likely pathogenic	19	39076581	39076581	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.14822T>G (p.Phe4941Cys)	RYR1	Likely pathogenic	19	39076596	39076596	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.14869-1G>T	RYR1	Pathogenic	19	39076730	39076730	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)	RYR1	Pathogenic/Likely pathogenic	19	39077211	39077211	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)	RYR1	Pathogenic/Likely pathogenic	19	38974059	38974059	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter)	CACNA1S	Likely pathogenic	1	201052414	201052414	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201058386	201058386	C	T	criteria provided, multiple submitters, no conflicts	-