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_000335.5(SCN5A):c.1140+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38648159	38648159	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014404
single nucleotide variant	NM_004006.3(DMD):c.5800G>T (p.Glu1934Ter)	DMD	Pathogenic	X	32360339	32360339	C	A	criteria provided, single submitter	ClinGen:CA412665134
single nucleotide variant	NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)	DMD	Pathogenic	X	32404510	32404510	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412662653
Deletion	NM_004006.3(DMD):c.6472_6473del (p.Val2158fs)	DMD	Pathogenic	X	31986597	31986598	AAC	A	criteria provided, single submitter	ClinGen:CA658799670
single nucleotide variant	NM_004100.5(EYA4):c.1341-2A>G	EYA4	Likely pathogenic	6	133834014	133834014	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA365714851
single nucleotide variant	NM_004006.3(DMD):c.2968C>T (p.Gln990Ter)	DMD	Pathogenic	X	32486809	32486809	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412667159
single nucleotide variant	NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)	DMD	Pathogenic	X	32366564	32366564	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412667762
single nucleotide variant	NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)	TTN	Likely pathogenic	2	179397637	179397637	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349413691
Deletion	NM_004006.3(DMD):c.6651_6652del (p.Asp2219fs)	DMD	Pathogenic	X	31950307	31950308	CTT	C	criteria provided, single submitter	ClinGen:CA658799675
single nucleotide variant	NM_004006.3(DMD):c.4495C>T (p.Gln1499Ter)	DMD	Pathogenic	X	32407641	32407641	G	A	criteria provided, single submitter	ClinGen:CA10378944