特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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
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.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.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.3460C>G (p.Arg1154Gly)	ABCC9	Pathogenic	12	21995261	21995261	G	C	criteria provided, single submitter	ClinGen:CA10588545
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.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.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.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.3656T>G (p.Leu1219Arg)	ABCC9	Likely pathogenic	12	21981905	21981905	A	C	criteria provided, single submitter	ClinGen:CA16619501