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
Deletion	NM_000540.3(RYR1):c.11178_11193+7del	RYR1	Likely pathogenic	19	39023164	39023186	TGCTGATATCATGGCAAAGGTGAG	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_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs)	CACNA1S	Pathogenic	1	201012583	201012586	CTGAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)	CACNA1S	Pathogenic	1	201020200	201020200	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)	CACNA1S	Pathogenic	1	201031155	201031155	C	T	criteria provided, single submitter	-
Deletion	NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)	CACNA1S	Pathogenic/Likely pathogenic	1	201035007	201035007	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201044724	201044724	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)	CACNA1S	Pathogenic	1	201058389	201058389	G	C	criteria provided, single submitter	-
Deletion	NM_000069.3(CACNA1S):c.732del (p.Cys245fs)	CACNA1S	Pathogenic	1	201058554	201058554	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.163C>T (p.Gln55Ter)	RYR1	Pathogenic	19	38931502	38931502	C	T	criteria provided, single submitter	-