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.2029C>T (p.Gln677Ter)	RYR1	Pathogenic/Likely pathogenic	19	38948794	38948794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616833,ClinVar:424828
single nucleotide variant	NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser)	RYR1	Likely pathogenic	19	38948884	38948884	G	A	criteria provided, single submitter	ClinGen:CA024327
Deletion	NM_000540.3(RYR1):c.2195del (p.Pro732fs)	RYR1	Likely pathogenic	19	38949810	38949810	TC	T	criteria provided, single submitter	-
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.2361-1G>C	RYR1	Likely pathogenic	19	38951014	38951014	G	C	criteria provided, single submitter	ClinGen:CA16620827
single nucleotide variant	NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter)	RYR1	Pathogenic	19	38951139	38951139	C	T	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.2505del (p.Pro836fs)	RYR1	Pathogenic/Likely pathogenic	19	38951155	38951155	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA207578
single nucleotide variant	NM_000540.3(RYR1):c.2575C>T (p.Gln859Ter)	RYR1	Likely pathogenic	19	38951229	38951229	C	T	criteria provided, single submitter	ClinGen:CA405630467
Indel	NM_000540.3(RYR1):c.2583_2586delinsGCT (p.Pro863fs)	RYR1	Pathogenic	19	38954068	38954071	CCTG	GCT	criteria provided, single submitter	ClinGen:CA658799213
single nucleotide variant	NM_000540.3(RYR1):c.2682G>A (p.Pro894=)	RYR1	Likely pathogenic	19	38954167	38954167	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA308074289