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.12625-1G>T	RYR1	Pathogenic	19	39055598	39055598	G	T	criteria provided, single submitter	ClinGen:CA023993
single nucleotide variant	NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter)	RYR1	Pathogenic	19	38956849	38956849	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn)	RYR1	Likely pathogenic	19	39076589	39076589	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA024262
Deletion	NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer)	RYR1	Pathogenic	19	38948220	38948224	TGCCTG	T	criteria provided, single submitter	ClinGen:CA205848
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
Duplication	NM_000540.3(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup)	RYR1	Likely pathogenic	19	38958305	38958306	A	ATCCTAT	criteria provided, single submitter	ClinGen:CA207670
single nucleotide variant	NM_000540.3(RYR1):c.3381+1G>A	RYR1	Pathogenic	19	38958453	38958453	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA209427
single nucleotide variant	NM_000540.3(RYR1):c.8724C>A (p.Tyr2908Ter)	RYR1	Pathogenic	19	38997500	38997500	C	A	criteria provided, single submitter	ClinGen:CA208618
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.10347+1G>A	RYR1	Pathogenic/Likely pathogenic	19	39013756	39013756	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA053108