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_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)	ABCC9	Pathogenic/Likely pathogenic	12	21995375	21995375	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260087,UniProtKB:O60706#VAR_068494,OMIM:601439.0009
single nucleotide variant	NM_020297.4(ABCC9):c.3347G>A (p.Arg1116His)	ABCC9	Pathogenic	12	21995374	21995374	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260083,UniProtKB:O60706#VAR_068495,OMIM:601439.0008
single nucleotide variant	NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln)	ABCC9	Pathogenic	12	21995260	21995260	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260062,UniProtKB:O60706#VAR_068496,OMIM:601439.0005
single nucleotide variant	NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	ABCC9	Pathogenic/Likely pathogenic	12	21995261	21995261	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260058,UniProtKB:O60706#VAR_068497,OMIM:601439.0004