不整脈原性右室心筋症

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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_001035.3(RYR2):c.344A>G (p.Tyr115Cys)	RYR2	Likely pathogenic	1	237532868	237532868	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del)	RYR2	Likely pathogenic	1	237947562	237947564	AGAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)	RYR2	Likely pathogenic	1	237791352	237791352	G	A	criteria provided, single submitter	ClinGen:CA345411490
single nucleotide variant	NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)	RYR2	Likely pathogenic	1	237982487	237982487	T	C	criteria provided, single submitter	ClinGen:CA345426834
single nucleotide variant	NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg)	RYR2	Likely pathogenic	1	237802410	237802410	G	A	criteria provided, single submitter	ClinGen:CA345395925
single nucleotide variant	NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	RYR2	Pathogenic	1	237604682	237604682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345376136
single nucleotide variant	NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)	RYR2	Pathogenic	1	237982492	237982492	G	T	criteria provided, single submitter	ClinGen:CA345426888
single nucleotide variant	NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)	RYR2	Pathogenic	1	237969536	237969536	A	G	criteria provided, single submitter	ClinGen:CA345423159
single nucleotide variant	NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg)	RYR2	Likely pathogenic	1	237802395	237802395	G	C	criteria provided, single submitter	ClinGen:CA345395895
single nucleotide variant	NM_001035.3(RYR2):c.567A>T (p.Glu189Asp)	RYR2	Likely pathogenic	1	237540726	237540726	A	T	criteria provided, single submitter	ClinGen:CA345375725