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_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)	CACNA1S	Pathogenic	1	201022667	201022667	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004048,UniProtKB:Q13698#VAR_001501,OMIM:114208.0002
single nucleotide variant	NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	CACNA1S	Pathogenic	1	201047043	201047043	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004021,UniProtKB:Q13698#VAR_001499,OMIM:114208.0003
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.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_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.10348-6C>G	RYR1	Pathogenic/Likely pathogenic	19	39013851	39013851	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023836,ClinVar:65396,OMIM:180901.0036
single nucleotide variant	NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)	RYR1	Pathogenic/Likely pathogenic	19	39071035	39071035	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024167,UniProtKB:P21817#VAR_045759
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.13900G>A (p.Glu4634Lys)	RYR1	Pathogenic	19	39062812	39062812	G	A	criteria provided, single submitter	ClinGen:CA024076
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