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_145064.3(STAC3):c.851G>C (p.Trp284Ser)	STAC3	Pathogenic	12	57638105	57638105	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA145329,UniProtKB:Q96MF2#VAR_071313,OMIM:615521.0001
single nucleotide variant	NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)	STAC3	Pathogenic/Likely pathogenic	12	57638005	57638005	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6646959,OMIM:615521.0002
Deletion	NM_145064.3(STAC3):c.383_399del (p.His128fs)	STAC3	Pathogenic	12	57642522	57642538	AGGACTGACAGTGTTCAT	A	criteria provided, single submitter	ClinGen:CA658656298
single nucleotide variant	NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)	STAC3	Pathogenic	12	57638387	57638387	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)	RYR1	Likely pathogenic	19	38937350	38937350	G	A	reviewed by expert panel	ClinGen:CA024797,UniProtKB:P21817#VAR_005591,OMIM:180901.0002
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.6617C>T (p.Thr2206Met)	RYR1	Pathogenic	19	38986923	38986923	C	T	reviewed by expert panel	ClinGen:CA024622,UniProtKB:P21817#VAR_005604,OMIM:180901.0014
single nucleotide variant	NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)	RYR1	Likely pathogenic	19	38994959	38994959	C	T	reviewed by expert panel	ClinGen:CA024883,UniProtKB:P21817#VAR_045729,OMIM:180901.0023,ClinVar:12985
single nucleotide variant	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1	Pathogenic/Likely pathogenic	19	38934252	38934252	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024392,UniProtKB:P21817#VAR_032910,OMIM:180901.0026
single nucleotide variant	NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	RYR1	Pathogenic/Likely pathogenic	19	38990601	38990601	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA024732,UniProtKB:P21817#VAR_032915,OMIM:180901.0027