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.8692+1G>T	RYR1	Likely pathogenic	19	38997187	38997187	G	T	criteria provided, single submitter	ClinGen:CA16608999
single nucleotide variant	NM_000540.3(RYR1):c.11908-2A>T	RYR1	Likely pathogenic	19	39034409	39034409	A	T	criteria provided, single submitter	ClinGen:CA16609000
single nucleotide variant	NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201035395	201035395	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617039
single nucleotide variant	NM_000540.3(RYR1):c.2361-1G>C	RYR1	Likely pathogenic	19	38951014	38951014	G	C	criteria provided, single submitter	ClinGen:CA16620827
single nucleotide variant	NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)	RYR1	Pathogenic/Likely pathogenic	19	38958433	38958433	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA064719
Duplication	NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)	RYR1	Pathogenic/Likely pathogenic	19	38964213	38964214	A	AGGCCCGGGCGGCGGAACCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620830
Deletion	NM_000540.3(RYR1):c.4590del (p.Asn1531fs)	RYR1	Likely pathogenic	19	38969209	38969209	GC	G	criteria provided, single submitter	ClinGen:CA16620831
single nucleotide variant	NM_000540.3(RYR1):c.4672C>T (p.Gln1558Ter)	RYR1	Pathogenic	19	38973718	38973718	C	T	criteria provided, single submitter	ClinGen:CA16620832
Deletion	NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)	RYR1	Pathogenic/Likely pathogenic	19	38976635	38976636	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA9415809
Deletion	NM_000540.3(RYR1):c.6566_6567del (p.Lys2189fs)	RYR1	Likely pathogenic	19	38986871	38986872	CAA	C	criteria provided, single submitter	ClinGen:CA16620836