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_145064.3(STAC3):c.739C>T (p.Gln247Ter)	STAC3	Pathogenic	12	57638387	57638387	G	A	criteria provided, single submitter	-
Deletion	NM_145064.3(STAC3):c.383_399del (p.His128fs)	STAC3	Pathogenic	12	57642522	57642538	AGGACTGACAGTGTTCAT	A	criteria provided, single submitter	ClinGen:CA658656298
single nucleotide variant	NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)	STAC3	Pathogenic/Likely pathogenic	12	57638005	57638005	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6646959,OMIM:615521.0002
single nucleotide variant	NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	STAC3	Pathogenic	12	57638105	57638105	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA145329,UniProtKB:Q96MF2#VAR_071313,OMIM:615521.0001
single nucleotide variant	NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)	RYR1	Pathogenic/Likely pathogenic	19	38949908	38949908	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.14129+1G>T	RYR1	Likely pathogenic	19	39063948	39063948	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.10687-2A>G	RYR1	Likely pathogenic	19	39018285	39018285	A	G	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_38502501)_(38502976_?)del	RYR1	Pathogenic	19	38993141	38993616	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.7615-1G>T	RYR1	Likely pathogenic	19	38993146	38993146	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.11608+2T>C	RYR1	Likely pathogenic	19	39027409	39027409	T	C	criteria provided, single submitter	-