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.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.12063_12064dup (p.Met4022fs)	RYR1	Pathogenic/Likely pathogenic	19	39037133	39037134	G	GAC	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	-
single nucleotide variant	NM_000540.3(RYR1):c.12624+1G>C	RYR1	Likely pathogenic	19	39052095	39052095	G	C	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.12978del (p.Glu4327fs)	RYR1	Pathogenic/Likely pathogenic	19	39055952	39055952	GC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000540.3(RYR1):c.13220del (p.Gly4407fs)	RYR1	Pathogenic	19	39056192	39056192	AG	A	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.13260del (p.Asp4421fs)	RYR1	Likely pathogenic	19	39056234	39056234	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.13437+1G>A	RYR1	Pathogenic	19	39056412	39056412	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.13836G>A (p.Trp4612Ter)	RYR1	Likely pathogenic	19	39062748	39062748	G	A	criteria provided, single submitter	-
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	-