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_001005242.3(PKP2):c.1379-1976G>A	PKP2	Likely pathogenic	12	32996115	32996115	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter)	PKP2	Pathogenic	12	32974457	32974457	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs)	PKP2	Pathogenic	12	32955355	32955356	GAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)	CACNA1C	Pathogenic	12	2702418	2702418	C	G	criteria provided, single submitter	OMIM:114205.0005
single nucleotide variant	NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter)	PKP2	Pathogenic/Likely pathogenic	12	33003844	33003844	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001005242.3(PKP2):c.1410del (p.Lys470fs)	PKP2	Pathogenic	12	32994108	32994108	GT	G	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_32802383)_(32802576_?)del	PKP2	Pathogenic	12	32955317	32955510	na	na	criteria provided, single submitter	-
Duplication	NM_001005242.3(PKP2):c.1434dup (p.Ala479fs)	PKP2	Pathogenic	12	32994083	32994084	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.499C>T (p.Gln167Ter)	PKP2	Pathogenic	12	33031315	33031315	G	A	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_32792404)_(32896751_?)del	PKP2	Pathogenic	12	32945338	33049685	na	na	criteria provided, single submitter	-