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.14209C>T (p.Arg4737Trp)	RYR1	Likely pathogenic	19	39068594	39068594	C	T	reviewed by expert panel	ClinGen:CA024116,UniProtKB:P21817#VAR_045750
single nucleotide variant	NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	RYR1	Pathogenic	19	39068595	39068595	G	A	reviewed by expert panel	ClinGen:CA024118,UniProtKB:P21817#VAR_045749
single nucleotide variant	NM_000540.3(RYR1):c.14627A>G (p.Lys4876Arg)	RYR1	Likely pathogenic	19	39071125	39071125	A	G	reviewed by expert panel	ClinGen:CA024200,UniProtKB:P21817#VAR_045766
single nucleotide variant	NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)	RYR1	Pathogenic/Likely pathogenic	19	39071143	39071143	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:424825,ClinGen:CA024204,UniProtKB:P21817#VAR_068521
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.14918C>T (p.Pro4973Leu)	RYR1	Likely pathogenic	19	39076780	39076780	C	T	reviewed by expert panel	ClinGen:CA024276,UniProtKB:P21817#VAR_045782
single nucleotide variant	NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys)	RYR1	Likely pathogenic	19	38945999	38945999	A	G	reviewed by expert panel	ClinGen:CA024287
single nucleotide variant	NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	RYR1	Likely pathogenic	19	38946103	38946103	G	A	reviewed by expert panel	ClinGen:CA024291,UniProtKB:P21817#VAR_058563
single nucleotide variant	NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)	RYR1	Likely pathogenic	19	38946129	38946129	T	C	reviewed by expert panel	ClinGen:CA024297
single nucleotide variant	NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)	RYR1	Likely pathogenic	19	38924507	38924507	T	G	reviewed by expert panel	UniProtKB:P21817#VAR_058560,ClinGen:CA024414