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
Deletion	NM_000540.3(RYR1):c.13058del (p.Gly4353fs)	RYR1	Pathogenic	19	39056030	39056030	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.13498G>T (p.Glu4500Ter)	RYR1	Pathogenic	19	39057611	39057611	G	T	criteria provided, single submitter	-
Duplication	NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs)	RYR1	Pathogenic	19	39058505	39058506	A	AAGCTGGAGGCGAATTCTGGGGAG	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.13672C>G (p.Arg4558Gly)	RYR1	Pathogenic	19	39061259	39061259	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)	RYR1	Pathogenic/Likely pathogenic	19	39062804	39062804	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.14423T>G (p.Phe4808Cys)	RYR1	Likely pathogenic	19	39070680	39070680	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)	RYR1	Pathogenic	19	39075603	39075603	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.14684G>T (p.Gly4895Val)	RYR1	Pathogenic	19	39075620	39075620	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000069.3(CACNA1S):c.4798-2A>G	CACNA1S	Likely pathogenic	1	201012661	201012661	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000069.3(CACNA1S):c.3525+1G>A	CACNA1S	Likely pathogenic	1	201028316	201028316	C	T	criteria provided, single submitter	-