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.14512-1G>A	RYR1	Pathogenic	19	39071009	39071009	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA113770
single nucleotide variant	NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)	STAC3	Pathogenic/Likely pathogenic	12	57638005	57638005	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6646959,OMIM:615521.0002
single nucleotide variant	NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter)	RYR1	Likely pathogenic	19	39077973	39077973	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621739
single nucleotide variant	NM_000540.3(RYR1):c.13654T>A (p.Phe4552Ile)	RYR1	Likely pathogenic	19	39058552	39058552	T	A	criteria provided, single submitter	ClinGen:CA405678249
single nucleotide variant	NM_000540.3(RYR1):c.14552T>C (p.Leu4851Pro)	RYR1	Pathogenic	19	39071050	39071050	T	C	criteria provided, single submitter	ClinGen:CA405687678
single nucleotide variant	NM_000540.3(RYR1):c.4160+1G>A	RYR1	Likely pathogenic	19	38964412	38964412	G	A	criteria provided, single submitter	ClinGen:CA405643333
single nucleotide variant	NM_000540.3(RYR1):c.5309C>A (p.Ser1770Ter)	RYR1	Likely pathogenic	19	38976604	38976604	C	A	criteria provided, single submitter	ClinGen:CA405654594
single nucleotide variant	NM_000540.3(RYR1):c.6232G>T (p.Glu2078Ter)	RYR1	Pathogenic	19	38983234	38983234	G	T	criteria provided, single submitter	ClinGen:CA405662433
single nucleotide variant	NM_000540.3(RYR1):c.6631A>C (p.Met2211Leu)	RYR1	Likely pathogenic	19	38986937	38986937	A	C	criteria provided, single submitter	ClinGen:CA405665993
single nucleotide variant	NM_000540.3(RYR1):c.2682G>A (p.Pro894=)	RYR1	Likely pathogenic	19	38954167	38954167	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA308074289