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.14209C>T (p.Arg4737Trp)	RYR1	Likely pathogenic	19	39068594	39068594	C	T	reviewed by expert panel	ClinGen:CA024116,UniProtKB:P21817#VAR_045750
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
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.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.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.7522C>T (p.Arg2508Cys)	RYR1	Likely pathogenic	19	38991538	38991538	C	T	reviewed by expert panel	ClinGen:CA024819,UniProtKB:P21817#VAR_075399,OMIM:180901.0043
single nucleotide variant	NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)	RYR1	Likely pathogenic	19	39062861	39062861	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA024091,UniProtKB:P21817#VAR_045744
single nucleotide variant	NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)	RYR1	Likely pathogenic	19	38991280	38991280	T	C	reviewed by expert panel	ClinGen:CA024775
single nucleotide variant	NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)	RYR1	Likely pathogenic	19	39075595	39075595	C	T	criteria provided, single submitter	ClinGen:CA024212
single nucleotide variant	NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)	RYR1	Likely pathogenic	19	39062824	39062824	G	A	criteria provided, single submitter	ClinGen:CA024082