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
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
single nucleotide variant	NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)	RYR1	Pathogenic/Likely pathogenic	19	39062821	39062821	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA024078,UniProtKB:P21817#VAR_045740,OMIM:180901.0030
Duplication	NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)	RYR1	Pathogenic	19	38946337	38946338	G	GAATC	criteria provided, single submitter	ClinGen:CA024307,OMIM:180901.0032
Deletion	NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)	RYR1	Pathogenic/Likely pathogenic	19	39055982	39056001	TCTGGGCAGCAGTGACGCGCG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024029,OMIM:180901.0034
single nucleotide variant	NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	CACNA1S	Pathogenic	1	201022666	201022666	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004054,UniProtKB:Q13698#VAR_001502,OMIM:114208.0001