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_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)	RYR1	Pathogenic	19	39016136	39016136	C	G	criteria provided, single submitter	ClinGen:CA405644022
single nucleotide variant	NM_000540.3(RYR1):c.784G>T (p.Glu262Ter)	RYR1	Pathogenic	19	38937392	38937392	G	T	criteria provided, single submitter	ClinGen:CA405680456
single nucleotide variant	NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg)	RYR1	Likely pathogenic	19	38948246	38948246	C	G	criteria provided, single submitter	ClinGen:CA405694267
single nucleotide variant	NM_000540.3(RYR1):c.2870+1G>A	RYR1	Pathogenic/Likely pathogenic	19	38955363	38955363	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA064115
single nucleotide variant	NM_000540.3(RYR1):c.5910G>C (p.Gln1970His)	RYR1	Likely pathogenic	19	38980811	38980811	G	C	criteria provided, single submitter	ClinGen:CA405660469
single nucleotide variant	NM_000540.3(RYR1):c.6127+1G>A	RYR1	Pathogenic/Likely pathogenic	19	38981373	38981373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA405660953
Deletion	NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs)	RYR1	Pathogenic/Likely pathogenic	19	39018324	39018325	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373266
single nucleotide variant	NM_000540.3(RYR1):c.14842C>A (p.Gln4948Lys)	RYR1	Pathogenic	19	39076616	39076616	C	A	criteria provided, single submitter	ClinGen:CA405692397
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
Deletion	NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs)	RYR1	Likely pathogenic	19	39077990	39077991	CAA	C	criteria provided, single submitter	ClinGen:CA658658810