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.5340_5341del (p.Cys1781fs)	RYR1	Pathogenic/Likely pathogenic	19	38976635	38976636	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA9415809
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
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
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.11590+1G>T	RYR1	Pathogenic/Likely pathogenic	19	39026711	39026711	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608213
single nucleotide variant	NM_000540.3(RYR1):c.10347+1G>A	RYR1	Pathogenic/Likely pathogenic	19	39013756	39013756	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA053108
single nucleotide variant	NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)	RYR1	Pathogenic/Likely pathogenic	19	38948794	38948794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616833,ClinVar:424828
Deletion	NM_000540.3(RYR1):c.2505del (p.Pro836fs)	RYR1	Pathogenic/Likely pathogenic	19	38951155	38951155	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA207578
single nucleotide variant	NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	RYR1	Pathogenic/Likely pathogenic	19	39051969	39051969	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023986
Deletion	NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs)	RYR1	Pathogenic/Likely pathogenic	19	38991475	38991487	GCAGCCAAAGATGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA024801