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.7343G>A (p.Gly2448Asp)	RYR1	Pathogenic	19	38991265	38991265	G	A	criteria provided, single submitter	-
Duplication	NM_000540.3(RYR1):c.4082dup (p.Gln1362fs)	RYR1	Pathogenic	19	38964329	38964330	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser)	RYR1	Likely pathogenic	19	38958324	38958324	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	RYR1	Pathogenic/Likely pathogenic	19	38956844	38956844	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.163C>T (p.Gln55Ter)	RYR1	Pathogenic	19	38931502	38931502	C	T	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.5995del (p.Arg1999fs)	RYR1	Pathogenic	19	38980895	38980895	TC	T	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.11178_11193+7del	RYR1	Likely pathogenic	19	39023164	39023186	TGCTGATATCATGGCAAAGGTGAG	T	criteria provided, single submitter	-
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	-
single nucleotide variant	NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)	RYR1	Likely pathogenic	19	38958362	38958362	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)	RYR1	Pathogenic	19	38995479	38995479	C	A	criteria provided, multiple submitters, no conflicts	-