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.13764del (p.Glu4590fs)	RYR1	Likely pathogenic	19	39062676	39062676	CA	C	criteria provided, single submitter	ClinGen:CA658799218
Indel	NM_000540.3(RYR1):c.2583_2586delinsGCT (p.Pro863fs)	RYR1	Pathogenic	19	38954068	38954071	CCTG	GCT	criteria provided, single submitter	ClinGen:CA658799213
Indel	NM_000540.3(RYR1):c.7969_7970delinsA (p.Leu2657fs)	RYR1	Pathogenic	19	38994902	38994903	CT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799203
Deletion	NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)	RYR1	Pathogenic/Likely pathogenic	19	38976410	38976417	CACTGCGCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA633066586
Duplication	NM_000540.3(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup)	RYR1	Likely pathogenic	19	39062792	39062793	A	ACATGGTGTACTACTT	criteria provided, single submitter	ClinGen:CA658799220
single nucleotide variant	NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln)	RYR1	Likely pathogenic	19	38948755	38948755	G	C	criteria provided, single submitter	ClinGen:CA405695800
single nucleotide variant	NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)	RYR1	Likely pathogenic	19	39008163	39008163	T	C	criteria provided, single submitter	ClinGen:CA405692345
Deletion	NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs)	CACNA1S	Likely pathogenic	1	201020187	201020187	CT	C	criteria provided, single submitter	ClinGen:CA658795583
Deletion	NM_000540.3(RYR1):c.4094del (p.Gly1365fs)	RYR1	Likely pathogenic	19	38964340	38964340	CG	C	criteria provided, single submitter	ClinGen:CA658799195
Deletion	NM_000540.3(RYR1):c.5509_5510del (p.Gln1837fs)	RYR1	Likely pathogenic	19	38976804	38976805	CCA	C	criteria provided, single submitter	ClinGen:CA658799199