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.5988C>T (p.Arg1996=)	RYR1	Likely pathogenic	19	38980889	38980889	C	T	criteria provided, single submitter	ClinGen:CA024548
single nucleotide variant	NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	RYR1	Likely pathogenic	19	38976478	38976478	C	T	reviewed by expert panel	ClinGen:CA024494
single nucleotide variant	NM_000540.3(RYR1):c.463C>A (p.Gln155Lys)	RYR1	Likely pathogenic	19	38934827	38934827	C	A	reviewed by expert panel	ClinGen:CA024451
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
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.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.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.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.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.14627A>G (p.Lys4876Arg)	RYR1	Likely pathogenic	19	39071125	39071125	A	G	reviewed by expert panel	ClinGen:CA024200,UniProtKB:P21817#VAR_045766