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_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)	CACNA1S	Pathogenic	1	201022667	201022667	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004048,UniProtKB:Q13698#VAR_001501,OMIM:114208.0002
single nucleotide variant	NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	CACNA1S	Pathogenic	1	201022666	201022666	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004054,UniProtKB:Q13698#VAR_001502,OMIM:114208.0001
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	-
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.4038del (p.Glu1348fs)	CACNA1S	Likely pathogenic	1	201020187	201020187	CT	C	criteria provided, single submitter	ClinGen:CA658795583
single nucleotide variant	NM_000069.3(CACNA1S):c.4113+1G>A	CACNA1S	Likely pathogenic	1	201020111	201020111	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.4113+1G>C	CACNA1S	Likely pathogenic	1	201020111	201020111	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.4798-2A>G	CACNA1S	Likely pathogenic	1	201012661	201012661	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs)	CACNA1S	Pathogenic	1	201012583	201012586	CTGAT	C	criteria provided, single submitter	-