特発性拡張型心筋症

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_000257.4(MYH7):c.1979C>A (p.Thr660Asn)	MYH7	Likely pathogenic	14	23896051	23896051	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001276345.2(TNNT2):c.609+1del	TNNT2	Likely pathogenic	1	201331513	201331513	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.1457+2T>G	MYBPC3	Likely pathogenic	11	47364379	47364379	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.655-2A>C	MYBPC3	Pathogenic	11	47370094	47370094	T	G	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs)	TTN	Likely pathogenic	2	179466182	179466183	CAT	C	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.3873del (p.Phe1292fs)	SCN5A	Pathogenic	3	38603993	38603993	AG	A	criteria provided, single submitter	ClinGen:CA658657283
single nucleotide variant	NM_000335.5(SCN5A):c.3837+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38607899	38607899	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148837
single nucleotide variant	NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38603923	38603923	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148091
Duplication	NM_004281.4(BAG3):c.1418dup (p.Ala474fs)	BAG3	Likely pathogenic	10	121436483	121436484	C	CG	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.1367del (p.Ile456fs)	MYBPC3	Pathogenic	11	47364471	47364471	GA	G	criteria provided, single submitter	-