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.3650G>A (p.Arg1217Lys)	ABCC9	Likely pathogenic	12	21981911	21981911	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met)	ABCC9	Pathogenic/Likely pathogenic	12	21970217	21970217	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384136638
single nucleotide variant	NM_020297.4(ABCC9):c.1385T>C (p.Val462Ala)	ABCC9	Likely pathogenic	12	22061081	22061081	A	G	criteria provided, single submitter	ClinGen:CA16619503
single nucleotide variant	NM_020297.4(ABCC9):c.3637T>G (p.Ser1213Ala)	ABCC9	Likely pathogenic	12	21981924	21981924	A	C	criteria provided, single submitter	ClinGen:CA16619502
single nucleotide variant	NM_020297.4(ABCC9):c.3656T>G (p.Leu1219Arg)	ABCC9	Likely pathogenic	12	21981905	21981905	A	C	criteria provided, single submitter	ClinGen:CA16619501
single nucleotide variant	NM_020297.4(ABCC9):c.2378A>T (p.Asp793Val)	ABCC9	Likely pathogenic	12	22013951	22013951	T	A	criteria provided, single submitter	ClinGen:CA16607204
single nucleotide variant	NM_020297.4(ABCC9):c.3347G>T (p.Arg1116Leu)	ABCC9	Likely pathogenic	12	21995374	21995374	C	A	criteria provided, single submitter	ClinGen:CA16607192
single nucleotide variant	NM_020297.4(ABCC9):c.4407T>G (p.Ile1469Met)	ABCC9	Likely pathogenic	12	21960322	21960322	A	C	criteria provided, single submitter	ClinGen:CA16607190
single nucleotide variant	NM_020297.4(ABCC9):c.878T>C (p.Phe293Ser)	ABCC9	Likely pathogenic	12	22065939	22065939	A	G	criteria provided, single submitter	ClinGen:CA10654763
single nucleotide variant	NM_020297.4(ABCC9):c.3460C>G (p.Arg1154Gly)	ABCC9	Pathogenic	12	21995261	21995261	G	C	criteria provided, single submitter	ClinGen:CA10588545