悪性高熱症 - MGenReviews

悪性高熱症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.838C>T (p.Arg280Ter)	RYR1	Pathogenic	19	38939032	38939032	C	T	criteria provided, single submitter	-
Deletion	NM_000540.2(RYR1):c.14970delG	RYR1	Likely pathogenic	19	39077164	39077164	AG	A	criteria provided, single submitter	-
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	-
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.3795G>T (p.Gln1265His)	CACNA1S	Likely pathogenic	1	201022587	201022587	C	A	criteria provided, multiple submitters, no conflicts	-
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_000540.3(RYR1):c.2485C>T (p.Arg829Ter)	RYR1	Pathogenic	19	38951139	38951139	C	T	criteria provided, single submitter	-
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	-
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.1841G>A (p.Arg614His)	RYR1	Likely pathogenic	19	38948186	38948186	G	A	criteria provided, multiple submitters, no conflicts	-