ブルガダ症候群

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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
Deletion	NM_000335.5(SCN5A):c.4243-2del	SCN5A	Pathogenic/Likely pathogenic	3	38598777	38598777	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018030
single nucleotide variant	NM_000335.5(SCN5A):c.4242+2T>A	SCN5A	Pathogenic/Likely pathogenic	3	38601636	38601636	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018025
single nucleotide variant	NM_000335.5(SCN5A):c.4242+1G>T	SCN5A	Likely pathogenic	3	38601637	38601637	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4242+1G>C	SCN5A	Pathogenic/Likely pathogenic	3	38601637	38601637	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018015
single nucleotide variant	NM_000335.5(SCN5A):c.4032G>A (p.Trp1344Ter)	SCN5A	Pathogenic	3	38601848	38601848	C	T	criteria provided, single submitter	ClinGen:CA017787
single nucleotide variant	NM_000335.5(SCN5A):c.3992C>G (p.Pro1331Arg)	SCN5A	Likely pathogenic	3	38601888	38601888	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017715
single nucleotide variant	NM_000335.5(SCN5A):c.3991C>T (p.Pro1331Ser)	SCN5A	Pathogenic	3	38601889	38601889	G	A	criteria provided, single submitter	ClinGen:CA017710
Deletion	NM_000335.5(SCN5A):c.3961-2_3961del	SCN5A	Pathogenic/Likely pathogenic	3	38601919	38601921	ACCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA307969
single nucleotide variant	NM_000335.5(SCN5A):c.3820G>T (p.Asp1274Tyr)	SCN5A	Pathogenic	3	38607917	38607917	C	A	criteria provided, single submitter	ClinGen:CA017536
single nucleotide variant	NM_000335.5(SCN5A):c.3647T>G (p.Leu1216Arg)	SCN5A	Likely pathogenic	3	38616804	38616804	A	C	criteria provided, single submitter	ClinGen:CA017365