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.13898T>C (p.Leu4633Pro)	RYR1	Likely pathogenic	19	39062810	39062810	T	C	criteria provided, single submitter	ClinGen:CA405680920
Duplication	NM_000540.3(RYR1):c.8667dup (p.Lys2890fs)	RYR1	Pathogenic	19	38997160	38997161	A	AG	criteria provided, single submitter	ClinGen:CA658658811
single nucleotide variant	NM_000540.3(RYR1):c.11662C>T (p.Gln3888Ter)	RYR1	Pathogenic	19	39028573	39028573	C	T	criteria provided, single submitter	ClinGen:CA405658399
single nucleotide variant	NM_000540.3(RYR1):c.11778+1G>T	RYR1	Pathogenic	19	39034076	39034076	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA405661484
Deletion	NM_000540.3(RYR1):c.12241_12242del (p.Thr4081fs)	RYR1	Pathogenic	19	39039019	39039020	AAC	A	criteria provided, single submitter	ClinGen:CA058497
single nucleotide variant	NM_000540.3(RYR1):c.14489C>A (p.Ser4830Tyr)	RYR1	Likely pathogenic	19	39070746	39070746	C	A	criteria provided, single submitter	ClinGen:CA405687375
Deletion	NM_000540.3(RYR1):c.4363del (p.Asp1455fs)	RYR1	Likely pathogenic	19	38968419	38968419	TG	T	criteria provided, single submitter	ClinGen:CA658684231
Indel	NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG	RYR1	Pathogenic/Likely pathogenic	19	38998464	38998471	CTGGGTAC	AAGCGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799210
Deletion	NM_000540.3(RYR1):c.3982_3986del (p.Pro1327_Asp1328insTer)	RYR1	Pathogenic	19	38964229	38964233	AACCCG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799194
single nucleotide variant	NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)	CACNA1S	Pathogenic/Likely pathogenic	1	201061139	201061139	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA35996896