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.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.14833C>T (p.Arg4945Ter)	RYR1	Pathogenic/Likely pathogenic	19	39076607	39076607	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA405692312
single nucleotide variant	NM_000540.3(RYR1):c.14822T>G (p.Phe4941Cys)	RYR1	Likely pathogenic	19	39076596	39076596	T	G	criteria provided, single submitter	-
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
single nucleotide variant	NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg)	RYR1	Pathogenic/Likely pathogenic	19	39076581	39076581	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.14804-1G>T	RYR1	Likely pathogenic	19	39076577	39076577	G	T	criteria provided, single submitter	ClinGen:CA024259
single nucleotide variant	NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)	RYR1	Likely pathogenic	19	39075698	39075698	T	C	criteria provided, single submitter	ClinGen:CA024251
single nucleotide variant	NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)	RYR1	Pathogenic	19	39075677	39075677	G	C	criteria provided, single submitter	ClinGen:CA024244,UniProtKB:P21817#VAR_045776
single nucleotide variant	NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)	RYR1	Pathogenic	19	39075676	39075676	A	G	criteria provided, single submitter	ClinGen:CA024242,UniProtKB:P21817#VAR_045775
single nucleotide variant	NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)	RYR1	Likely pathogenic	19	39075653	39075653	C	T	criteria provided, single submitter	ClinGen:CA024241,UniProtKB:P21817#VAR_045774