カテコラミン誘発性多形性心室頻拍

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_001035.3(RYR2):c.14311G>A (p.Val4771Ile)	RYR2	Pathogenic	1	237972213	237972213	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008220,UniProtKB:Q92736#VAR_044107
single nucleotide variant	NM_001035.3(RYR2):c.14623G>C (p.Asp4875His)	RYR2	Likely pathogenic	1	237991713	237991713	G	C	criteria provided, single submitter	ClinGen:CA008317
single nucleotide variant	NM_001035.3(RYR2):c.14704C>T (p.Pro4902Ser)	RYR2	Pathogenic	1	237993878	237993878	C	T	criteria provided, single submitter	ClinGen:CA008352
single nucleotide variant	NM_001035.3(RYR2):c.14804G>C (p.Gly4935Ala)	RYR2	Likely pathogenic	1	237994861	237994861	G	C	criteria provided, single submitter	ClinGen:CA008410
single nucleotide variant	NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)	RYR2	Likely pathogenic	1	237995888	237995888	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008433
single nucleotide variant	NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)	RYR2	Pathogenic/Likely pathogenic	1	237995919	237995919	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008450,UniProtKB:Q92736#VAR_023696
single nucleotide variant	NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)	RYR2	Likely pathogenic	1	237995928	237995928	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008466
single nucleotide variant	NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter)	RYR2	Likely pathogenic	1	237664043	237664043	C	T	criteria provided, single submitter	ClinGen:CA279868
single nucleotide variant	NM_001035.3(RYR2):c.2238A>C (p.Gln746His)	RYR2	Likely pathogenic	1	237664045	237664045	A	C	criteria provided, single submitter	ClinGen:CA279850
Deletion	NM_001232.4(CASQ2):c.546del (p.Phe182fs)	CASQ2	Pathogenic/Likely pathogenic	1	116275582	116275582	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351370