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_004168.4(SDHA):c.644_645del (p.Tyr215fs)	SDHA	Pathogenic	5	228321	228322	CTA	C	criteria provided, single submitter	-
Inversion	NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)	SDHA	Pathogenic	5	251541	251542	AC	GT	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_105546358)_(105620061_?)del	FKTN	Pathogenic	9	108308639	108382342	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter)	SCN5A	Pathogenic	3	38651255	38651255	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611395
Deletion	NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592443	38592446	CTGAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611455
single nucleotide variant	NM_000256.3(MYBPC3):c.852-2A>G	MYBPC3	Pathogenic/Likely pathogenic	11	47369032	47369032	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004281.4(BAG3):c.146G>A (p.Trp49Ter)	BAG3	Pathogenic	10	121411333	121411333	G	A	criteria provided, single submitter	-
Duplication	NM_004281.4(BAG3):c.277dup (p.Tyr93fs)	BAG3	Pathogenic	10	121429458	121429459	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_004281.4(BAG3):c.537C>A (p.Cys179Ter)	BAG3	Pathogenic	10	121431796	121431796	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1759G>C (p.Asp587His)	MYH7	Likely pathogenic	14	23896923	23896923	C	G	criteria provided, single submitter	-