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_001927.4(DES):c.1A>G (p.Met1Val)	DES	Likely pathogenic	2	220283185	220283185	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604392
single nucleotide variant	NM_004100.5(EYA4):c.1537C>T (p.Gln513Ter)	EYA4	Pathogenic	6	133836494	133836494	C	T	criteria provided, single submitter	ClinGen:CA16604856
single nucleotide variant	NM_000256.3(MYBPC3):c.1351+1G>C	MYBPC3	Pathogenic	11	47364571	47364571	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605932
single nucleotide variant	NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	MYH7	Pathogenic/Likely pathogenic	14	23883216	23883216	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606815
single nucleotide variant	NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu)	MYH7	Pathogenic/Likely pathogenic	14	23894968	23894968	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606949
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_004006.3(DMD):c.5758C>T (p.Gln1920Ter)	DMD	Pathogenic	X	32360381	32360381	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608442
single nucleotide variant	NM_004006.3(DMD):c.5872G>T (p.Glu1958Ter)	DMD	Pathogenic	X	32360267	32360267	C	A	criteria provided, single submitter	ClinGen:CA16608896