悪性高熱症 - MGenReviews

悪性高熱症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.784G>T (p.Glu262Ter)	RYR1	Pathogenic	19	38937392	38937392	G	T	criteria provided, single submitter	ClinGen:CA405680456
single nucleotide variant	NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)	RYR1	Pathogenic	19	38939032	38939032	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)	RYR1	Pathogenic	19	38939352	38939352	G	A	reviewed by expert panel	ClinGen:CA023827,UniProtKB:P21817#VAR_005592,OMIM:180901.0006
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.1186G>A (p.Glu396Lys)	RYR1	Likely pathogenic	19	38942467	38942467	G	A	criteria provided, single submitter	ClinGen:CA16043553
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
Deletion	NM_000540.3(RYR1):c.1218del (p.Asn407fs)	RYR1	Pathogenic	19	38942498	38942498	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)	RYR1	Pathogenic	19	38943556	38943556	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.1440+1G>A	RYR1	Likely pathogenic	19	38943655	38943655	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys)	RYR1	Likely pathogenic	19	38945999	38945999	A	G	reviewed by expert panel	ClinGen:CA024287