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.11763C>A (p.Tyr3921Ter)	RYR1	Pathogenic/Likely pathogenic	19	39034060	39034060	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023934
single nucleotide variant	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1	Pathogenic/Likely pathogenic	19	38987106	38987106	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:424825,ClinGen:CA024643,OMIM:180901.0039
Duplication	NM_000540.3(RYR1):c.3801dup (p.Cys1268fs)	RYR1	Pathogenic/Likely pathogenic	19	38964046	38964047	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA233323
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.14677C>T (p.Arg4893Trp)	RYR1	Pathogenic/Likely pathogenic	19	39075613	39075613	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024220,UniProtKB:P21817#VAR_045769
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.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
Deletion	NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)	RYR1	Pathogenic/Likely pathogenic	19	39055982	39056001	TCTGGGCAGCAGTGACGCGCG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024029,OMIM:180901.0034
single nucleotide variant	NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)	RYR1	Pathogenic/Likely pathogenic	19	39062821	39062821	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA024078,UniProtKB:P21817#VAR_045740,OMIM:180901.0030
single nucleotide variant	NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	RYR1	Pathogenic/Likely pathogenic	19	38990601	38990601	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA024732,UniProtKB:P21817#VAR_032915,OMIM:180901.0027