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.255del (p.Phe86fs)	SCN5A	Pathogenic/Likely pathogenic	3	38674544	38674544	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016281
Deletion	NM_000335.5(SCN5A):c.3992del (p.Pro1331fs)	SCN5A	Pathogenic	3	38601888	38601888	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017726
Deletion	NM_004572.3(PKP2):c.(?_1689)_(1806_?)del	PKP2	Likely pathogenic	12	32976979	32977096	na	na	criteria provided, single submitter	-
Deletion	NM_001005242.3(PKP2):c.2419del (p.Thr807fs)	PKP2	Likely pathogenic	12	32945604	32945604	GT	G	criteria provided, single submitter	ClinGen:CA012158
single nucleotide variant	NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter)	PKP2	Pathogenic/Likely pathogenic	12	33031042	33031042	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012485
Deletion	NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	PKP2	Pathogenic/Likely pathogenic	12	32945646	32945646	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012110
single nucleotide variant	NM_000335.5(SCN5A):c.1140+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38648159	38648159	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014404
single nucleotide variant	NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)	KCNH2	Pathogenic	7	150647424	150647424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006370
single nucleotide variant	NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)	KCNH2	Pathogenic	7	150655378	150655378	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008681
Duplication	NM_000238.4(KCNH2):c.2900dup (p.Pro968fs)	KCNH2	Pathogenic	7	150644758	150644759	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA305332