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_001103.4(ACTN2):c.683T>C (p.Met228Thr)	ACTN2	Likely pathogenic	1	236894600	236894600	T	C	criteria provided, single submitter	ClinGen:CA274533,UniProtKB:P35609#VAR_074292,OMIM:102573.0007
Deletion	NM_001103.4(ACTN2):c.1793del (p.Pro598fs)	ACTN2	Likely pathogenic	1	236914904	236914904	AC	A	criteria provided, single submitter	ClinGen:CA658795623
single nucleotide variant	NM_001103.4(ACTN2):c.2527-1G>A	ACTN2	Pathogenic	1	236925760	236925760	G	A	criteria provided, single submitter	ClinGen:CA335020
single nucleotide variant	NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter)	ACTN2	Pathogenic	1	236925812	236925812	C	T	criteria provided, single submitter	ClinGen:CA335049