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
Duplication	NM_001005242.3(PKP2):c.1211dup (p.Val406fs)	PKP2	Pathogenic	12	33003866	33003867	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA010901
single nucleotide variant	NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)	PKP2	Pathogenic	12	33003841	33003841	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010558
Deletion	NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)	PKP2	Likely pathogenic	12	33003706	33003709	ATTTG	A	criteria provided, single submitter	ClinGen:CA010987
single nucleotide variant	NM_001005242.3(PKP2):c.1378+1G>C	PKP2	Pathogenic/Likely pathogenic	12	33003699	33003699	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011004
Deletion	NM_001005242.3(PKP2):c.14del (p.Gly5fs)	PKP2	Pathogenic/Likely pathogenic	12	33049652	33049652	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011095
Deletion	NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	PKP2	Pathogenic	12	33049515	33049518	ACTGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011079
single nucleotide variant	NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter)	PKP2	Pathogenic	12	32994036	32994036	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011243
single nucleotide variant	NM_001005242.3(PKP2):c.1556+1G>A	PKP2	Pathogenic/Likely pathogenic	12	32993961	32993961	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011303
Deletion	NM_001005242.3(PKP2):c.1577del (p.Ala526fs)	PKP2	Likely pathogenic	12	32977076	32977076	AG	A	criteria provided, single submitter	ClinGen:CA011338
Deletion	NM_001005242.3(PKP2):c.1627del (p.Val543fs)	PKP2	Pathogenic/Likely pathogenic	12	32977026	32977026	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011381