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
single nucleotide variant	NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38662410	38662410	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.773-2A>T	MYBPC3	Likely pathogenic	11	47369458	47369458	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.622C>T (p.Gln208Ter)	MYBPC3	Likely pathogenic	11	47371357	47371357	G	A	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_133506020)_(133528840_?)del	EYA4	Likely pathogenic	6	133827158	133849978	na	na	criteria provided, single submitter	-