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.7036G>A (p.Val2346Met)	RYR1	Likely pathogenic	19	38990283	38990283	G	A	reviewed by expert panel	ClinGen:CA024676,UniProtKB:P21817#VAR_045718
single nucleotide variant	NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly)	RYR1	Likely pathogenic	19	38990290	38990290	A	G	reviewed by expert panel	ClinGen:CA024686,UniProtKB:P21817#VAR_045720
single nucleotide variant	NM_000540.3(RYR1):c.7090T>G (p.Phe2364Val)	RYR1	Likely pathogenic	19	38990337	38990337	T	G	reviewed by expert panel	ClinGen:CA024702
single nucleotide variant	NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)	RYR1	Likely pathogenic	19	38990624	38990624	G	A	reviewed by expert panel	ClinGen:CA024741,UniProtKB:P21817#VAR_045726
single nucleotide variant	NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	RYR1	Likely pathogenic	19	38990624	38990624	G	T	reviewed by expert panel	ClinGen:CA024744
single nucleotide variant	NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu)	RYR1	Likely pathogenic	19	38990637	38990637	G	T	reviewed by expert panel	ClinGen:CA024753,UniProtKB:P21817#VAR_008974
single nucleotide variant	NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val)	RYR1	Likely pathogenic	19	38990643	38990643	C	T	reviewed by expert panel	UniProtKB:P21817#VAR_045727,ClinGen:CA024756
single nucleotide variant	NM_000540.3(RYR1):c.7324-1G>T	RYR1	Pathogenic	19	38991245	38991245	G	T	criteria provided, single submitter	ClinGen:CA024767
single nucleotide variant	NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)	RYR1	Pathogenic	19	38937350	38937350	G	C	reviewed by expert panel	ClinGen:CA024799,UniProtKB:P21817#VAR_005591
single nucleotide variant	NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)	CACNA1S	Likely pathogenic	1	201029944	201029944	G	T	criteria provided, single submitter	ClinGen:CA004036