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_001005242.3(PKP2):c.2437_2445+41del	PKP2	Likely pathogenic	12	32945537	32945586	TGGCTCTGTTAACTATGACACATTCCTTGTTCATGTTCTTACCTTCTTGTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614117
single nucleotide variant	NM_001005242.3(PKP2):c.2168-1G>A	PKP2	Likely pathogenic	12	32949233	32949233	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614123
single nucleotide variant	NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe)	PKP2	Pathogenic	12	32975528	32975528	G	A	criteria provided, single submitter	ClinGen:CA16614124
Deletion	NM_001005242.3(PKP2):c.1625del (p.Leu542fs)	PKP2	Pathogenic	12	32977028	32977028	CA	C	criteria provided, single submitter	ClinGen:CA16614127
Duplication	NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs)	PKP2	Pathogenic	12	32977056	32977057	T	TCATC	criteria provided, single submitter	ClinGen:CA16614128
single nucleotide variant	NM_005477.3(HCN4):c.1439G>T (p.Gly480Val)	HCN4	Likely pathogenic	15	73622065	73622065	C	A	criteria provided, single submitter	ClinGen:CA16614737
single nucleotide variant	NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu)	KCND3	Likely pathogenic	1	112524298	112524298	A	G	criteria provided, single submitter	ClinGen:CA16616957
Duplication	NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs)	SCN5A	Likely pathogenic	3	38592329	38592330	C	CCACT	criteria provided, single submitter	ClinGen:CA16617941
single nucleotide variant	NM_000335.5(SCN5A):c.4336T>C (p.Tyr1446His)	SCN5A	Likely pathogenic	3	38598030	38598030	A	G	criteria provided, single submitter	ClinGen:CA16617946
Deletion	NM_000335.5(SCN5A):c.4191del (p.Val1399fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601689	38601689	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617947