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.13782del (p.Gly4595fs)	RYR1	Pathogenic	19	39062693	39062693	GA	G	criteria provided, single submitter	ClinGen:CA658799219
single nucleotide variant	NM_000540.3(RYR1):c.6664-2A>G	RYR1	Pathogenic/Likely pathogenic	19	38987047	38987047	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA405666150
Deletion	NM_000540.3(RYR1):c.10690_10703del (p.Glu3564fs)	RYR1	Pathogenic	19	39018287	39018300	GGTCGAAGGCTCCCC	G	criteria provided, single submitter	ClinGen:CA658799197
Duplication	NM_000540.3(RYR1):c.8812dup (p.Thr2938fs)	RYR1	Pathogenic	19	38997587	38997588	T	TA	criteria provided, single submitter	ClinGen:CA658799209
single nucleotide variant	NM_000540.3(RYR1):c.13940T>C (p.Leu4647Pro)	RYR1	Likely pathogenic	19	39062852	39062852	T	C	criteria provided, single submitter	ClinGen:CA405681239
Indel	NM_000540.3(RYR1):c.14579_14580delinsAA (p.Phe4860Ter)	RYR1	Pathogenic	19	39071077	39071078	TC	AA	criteria provided, single submitter	ClinGen:CA658799204
single nucleotide variant	NM_000540.3(RYR1):c.223C>T (p.Arg75Ter)	RYR1	Pathogenic	19	38933046	38933046	C	T	criteria provided, single submitter	ClinGen:CA405674145
Deletion	NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs)	RYR1	Pathogenic	19	38960074	38960087	ATGCAGCGCCCAGTC	A	criteria provided, single submitter	ClinGen:CA065089
single nucleotide variant	NM_000540.3(RYR1):c.8311-1G>C	RYR1	Likely pathogenic	19	38995948	38995948	G	C	criteria provided, single submitter	ClinGen:CA405677342
single nucleotide variant	NM_000540.3(RYR1):c.12727G>A (p.Glu4243Lys)	RYR1	Pathogenic/Likely pathogenic	19	39055701	39055701	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA405671017