ブルガダ症候群

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_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu)	CACNA1C	Likely pathogenic	12	2763013	2763013	G	C	criteria provided, single submitter	ClinGen:CA383373945
Deletion	NM_000335.5(SCN5A):c.1613del (p.Gly538fs)	SCN5A	Pathogenic/Likely pathogenic	3	38645480	38645480	AC	A	criteria provided, single submitter	ClinGen:CA658796278
Deletion	NM_000238.4(KCNH2):c.3054del (p.Thr1019fs)	KCNH2	Pathogenic	7	150644514	150644514	TG	T	criteria provided, single submitter	ClinGen:CA658797032
Duplication	NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs)	KCNH2	Likely pathogenic	7	150655518	150655519	G	GACCGCACC	criteria provided, single submitter	ClinGen:CA658797050
Duplication	NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter)	PKP2	Likely pathogenic	12	32975436	32975437	C	CAATACTTTTGTTGTTGTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797867
Deletion	NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer)	PKP2	Pathogenic	12	33031913	33031917	ACCAAG	A	criteria provided, single submitter	ClinGen:CA658797870
single nucleotide variant	NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38592951	38592951	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063937
Duplication	NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs)	KCNH2	Pathogenic	7	150644460	150644461	G	GCCCCGGGGCCGCC	criteria provided, single submitter	ClinGen:CA658797028
Duplication	NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs)	KCNH2	Pathogenic/Likely pathogenic	7	150655511	150655512	G	GCCGCCCGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797049
Deletion	NM_001005242.3(PKP2):c.986_992del (p.Ser329fs)	PKP2	Pathogenic/Likely pathogenic	12	33030822	33030828	ATTCCCAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797862