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_000069.3(CACNA1S):c.732del (p.Cys245fs)	CACNA1S	Pathogenic	1	201058554	201058554	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)	CACNA1S	Pathogenic	1	201058389	201058389	G	C	criteria provided, single submitter	-
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	-
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.2970G>A (p.Trp990Ter)	CACNA1S	Pathogenic	1	201031155	201031155	C	T	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	-
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.2269C>T (p.Arg757Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201039491	201039491	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	CACNA1S	Likely pathogenic	1	201022587	201022587	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs)	CACNA1S	Pathogenic	1	201020237	201020237	AG	A	criteria provided, single submitter	-