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.463C>A (p.Gln155Lys)	RYR1	Likely pathogenic	19	38934827	38934827	C	A	reviewed by expert panel	ClinGen:CA024451
single nucleotide variant	NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	RYR1	Likely pathogenic	19	38976478	38976478	C	T	reviewed by expert panel	ClinGen:CA024494
single nucleotide variant	NM_000540.3(RYR1):c.529C>T (p.Arg177Cys)	RYR1	Pathogenic	19	38934893	38934893	C	T	reviewed by expert panel	ClinGen:CA024503,UniProtKB:P21817#VAR_045700
Deletion	NM_000540.3(RYR1):c.5938del (p.Leu1980fs)	RYR1	Pathogenic	19	38980838	38980838	TC	T	criteria provided, single submitter	ClinGen:CA024545
single nucleotide variant	NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)	RYR1	Likely pathogenic	19	38980889	38980889	C	T	criteria provided, single submitter	ClinGen:CA024548
single nucleotide variant	NM_000540.3(RYR1):c.6349G>C (p.Val2117Leu)	RYR1	Likely pathogenic	19	38985066	38985066	G	C	reviewed by expert panel	ClinGen:CA024566,UniProtKB:P21817#VAR_045712
single nucleotide variant	NM_000540.3(RYR1):c.6387C>G (p.Asp2129Glu)	RYR1	Likely pathogenic	19	38985104	38985104	C	G	reviewed by expert panel	ClinGen:CA024575,UniProtKB:P21817#VAR_045713
single nucleotide variant	NM_000540.3(RYR1):c.6488G>C (p.Arg2163Pro)	RYR1	Likely pathogenic	19	38985205	38985205	G	C	reviewed by expert panel	ClinGen:CA024596,UniProtKB:P21817#VAR_008972
single nucleotide variant	NM_000540.3(RYR1):c.6628G>T (p.Val2210Phe)	RYR1	Likely pathogenic	19	38986934	38986934	G	T	reviewed by expert panel	ClinGen:CA024625
single nucleotide variant	NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	RYR1	Likely pathogenic	19	38987541	38987541	G	A	reviewed by expert panel	UniProtKB:P21817#VAR_045715,ClinGen:CA024651