特発性拡張型心筋症

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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
Deletion	NM_170707.4(LMNA):c.1142del (p.Glu381fs)	LMNA	Pathogenic	1	156105897	156105897	GA	G	criteria provided, single submitter	ClinGen:CA658795535
single nucleotide variant	NM_170707.4(LMNA):c.937-1G>A	LMNA	Likely pathogenic	1	156105691	156105691	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342819711
single nucleotide variant	NM_170707.4(LMNA):c.1380+2T>G	LMNA	Pathogenic	1	156106229	156106229	T	G	criteria provided, single submitter	ClinGen:CA342822325
Duplication	NM_144573.4(NEXN):c.1348dup (p.Ser450fs)	NEXN	Pathogenic	1	78401599	78401600	T	TA	criteria provided, single submitter	ClinGen:CA658795479
Deletion	NC_000002.12:g.(?_178528254)_(178544135_?)del	TTN	Likely pathogenic	2	179392981	179408862	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)	TTN	Likely pathogenic	2	179396827	179396827	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349411489
Deletion	NM_001267550.2(TTN):c.103336del (p.Ser34446fs)	TTN	Likely pathogenic	2	179398006	179398006	CT	C	criteria provided, single submitter	ClinGen:CA658795985
Deletion	NM_001267550.2(TTN):c.94939del (p.Ile31647fs)	TTN	Likely pathogenic	2	179411119	179411119	AT	A	criteria provided, single submitter	ClinGen:CA658795979
Deletion	NM_001267550.2(TTN):c.98660del (p.Pro32887fs)	TTN	Likely pathogenic	2	179404132	179404132	TG	T	criteria provided, single submitter	ClinGen:CA658795964
single nucleotide variant	NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)	TTN	Likely pathogenic	2	179414896	179414896	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349499329