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.15016G>A (p.Gly5006Ser)	RYR1	Pathogenic/Likely pathogenic	19	39077211	39077211	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg)	RYR1	Pathogenic/Likely pathogenic	19	39076581	39076581	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.14173-2A>G	RYR1	Pathogenic/Likely pathogenic	19	39068556	39068556	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg)	RYR1	Pathogenic/Likely pathogenic	19	39062831	39062831	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys)	RYR1	Pathogenic/Likely pathogenic	19	39062804	39062804	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000540.3(RYR1):c.12978del (p.Glu4327fs)	RYR1	Pathogenic/Likely pathogenic	19	39055952	39055952	GC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000540.3(RYR1):c.12113dup (p.Met4038fs)	RYR1	Pathogenic/Likely pathogenic	19	39038890	39038891	A	AT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)	RYR1	Pathogenic/Likely pathogenic	19	39037133	39037134	G	GAC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter)	RYR1	Pathogenic/Likely pathogenic	19	39034432	39034432	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000540.3(RYR1):c.11320dup (p.Ala3774fs)	RYR1	Pathogenic/Likely pathogenic	19	39025414	39025415	C	CG	criteria provided, multiple submitters, no conflicts	-