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
Duplication	NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)	RYR1	Pathogenic	19	38987506	38987507	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603532
Deletion	NM_000540.3(RYR1):c.4485_4500del (p.Val1494_Trp1495insTer)	RYR1	Pathogenic	19	38969101	38969116	GTGTGGGGCGGAGACTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603641
Deletion	NM_000540.3(RYR1):c.12315_12328del (p.Glu4106fs)	RYR1	Pathogenic	19	39051782	39051795	GTCCAGAAATCCAGT	G	criteria provided, single submitter	ClinGen:CA10603893
single nucleotide variant	NM_000540.3(RYR1):c.8400+2T>A	RYR1	Likely pathogenic	19	38996040	38996040	T	A	criteria provided, single submitter	ClinGen:CA16043101
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.8463G>A (p.Trp2821Ter)	RYR1	Pathogenic	19	38996508	38996508	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043556
single nucleotide variant	NM_000540.3(RYR1):c.5814+1G>A	RYR1	Likely pathogenic	19	38980084	38980084	G	A	criteria provided, single submitter	ClinGen:CA16043818
single nucleotide variant	NM_000540.3(RYR1):c.7835+1G>A	RYR1	Likely pathogenic	19	38993368	38993368	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607795
single nucleotide variant	NM_000540.3(RYR1):c.14495C>A (p.Thr4832Asn)	RYR1	Pathogenic	19	39070752	39070752	C	A	criteria provided, single submitter	ClinGen:CA16607807
single nucleotide variant	NM_000540.3(RYR1):c.11590+1G>T	RYR1	Pathogenic/Likely pathogenic	19	39026711	39026711	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608213