不整脈原性右室心筋症

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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
single nucleotide variant	NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter)	DSP	Pathogenic/Likely pathogenic	6	7580720	7580720	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362685996
Deletion	NM_001005242.3(PKP2):c.986_992del (p.Ser329fs)	PKP2	Pathogenic/Likely pathogenic	12	33030822	33030828	ATTCCCAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797862
Deletion	NM_001943.5(DSG2):c.667del (p.Thr223fs)	DSG2	Likely pathogenic	18	29102188	29102188	CA	C	criteria provided, single submitter	ClinGen:CA658799038
Deletion	NC_000001.11:g.(?_156114899)_(156139859_?)del	LMNA	Pathogenic	1	156084690	156109650	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156114899)_(156126243_?)del	LMNA	Pathogenic	1	156084690	156096034	na	na	criteria provided, single submitter	-
Duplication	NM_170707.4(LMNA):c.52_53dup (p.Thr19fs)	LMNA	Pathogenic	1	156084759	156084760	G	GCT	criteria provided, single submitter	ClinGen:CA658795525
Duplication	NM_170707.4(LMNA):c.248_251dup (p.Glu84fs)	LMNA	Pathogenic	1	156084956	156084957	G	GCCGA	criteria provided, single submitter	ClinGen:CA658795526
single nucleotide variant	NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)	LMNA	Pathogenic	1	156100442	156100442	C	T	criteria provided, single submitter	ClinGen:CA342815144
Duplication	NM_170707.4(LMNA):c.729dup (p.Ala244fs)	LMNA	Pathogenic	1	156104684	156104685	A	AT	criteria provided, single submitter	ClinGen:CA658795528
Indel	NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp)	LMNA	Pathogenic	1	156104700	156104701	GC	TT	criteria provided, single submitter	ClinGen:CA658795529