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.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.14717C>T (p.Ala4906Val)	RYR1	Likely pathogenic	19	39075653	39075653	C	T	criteria provided, single submitter	ClinGen:CA024241,UniProtKB:P21817#VAR_045774
single nucleotide variant	NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)	RYR1	Likely pathogenic	19	38931436	38931436	A	G	reviewed by expert panel	ClinGen:CA025005,OMIM:180901.0038
single nucleotide variant	NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)	RYR1	Likely pathogenic	19	39008291	39008291	C	A	criteria provided, single submitter	ClinGen:CA025011,UniProtKB:P21817#VAR_063848
single nucleotide variant	NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)	CACNA1S	Likely pathogenic	1	201036045	201036045	A	T	criteria provided, single submitter	ClinGen:CA004028,OMIM:114208.0009
single nucleotide variant	NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)	RYR1	Likely pathogenic	19	38994959	38994959	C	T	reviewed by expert panel	ClinGen:CA024883,UniProtKB:P21817#VAR_045729,OMIM:180901.0023,ClinVar:12985
single nucleotide variant	NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)	RYR1	Likely pathogenic	19	38937350	38937350	G	A	reviewed by expert panel	ClinGen:CA024797,UniProtKB:P21817#VAR_005591,OMIM:180901.0002