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.14740A>G (p.Arg4914Gly)	RYR1	Pathogenic	19	39075676	39075676	A	G	criteria provided, single submitter	ClinGen:CA024242,UniProtKB:P21817#VAR_045775
single nucleotide variant	NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)	RYR1	Pathogenic	19	39075677	39075677	G	C	criteria provided, single submitter	ClinGen:CA024244,UniProtKB:P21817#VAR_045776
single nucleotide variant	NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)	RYR1	Pathogenic	19	39062822	39062822	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024080,UniProtKB:P21817#VAR_045741
single nucleotide variant	NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	STAC3	Pathogenic	12	57638105	57638105	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA145329,UniProtKB:Q96MF2#VAR_071313,OMIM:615521.0001
single nucleotide variant	NM_000540.3(RYR1):c.1021G>C (p.Gly341Arg)	RYR1	Pathogenic	19	38939352	38939352	G	C	reviewed by expert panel	ClinGen:CA023828,UniProtKB:P21817#VAR_005592
single nucleotide variant	NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	RYR1	Likely pathogenic	19	39025415	39025415	G	A	reviewed by expert panel	ClinGen:CA023909,UniProtKB:P21817#VAR_045734
single nucleotide variant	NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)	RYR1	Likely pathogenic	19	39034005	39034005	G	A	reviewed by expert panel	ClinGen:CA023926
single nucleotide variant	NM_000540.3(RYR1):c.1202G>A (p.Arg401His)	RYR1	Pathogenic	19	38942483	38942483	G	A	reviewed by expert panel	ClinGen:CA023959,UniProtKB:P21817#VAR_045706
single nucleotide variant	NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr)	RYR1	Likely pathogenic	19	39038927	39038927	C	A	reviewed by expert panel	ClinGen:CA023971
single nucleotide variant	NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu)	RYR1	Likely pathogenic	19	39055674	39055674	G	C	reviewed by expert panel	ClinGen:CA024001,UniProtKB:P21817#VAR_045738