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_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)	TTN	Pathogenic/Likely pathogenic	2	179395919	179395919	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.1652G>A (p.Trp551Ter)	DMD	Pathogenic	X	32591914	32591914	C	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.4151del (p.Glu1384fs)	DMD	Pathogenic	X	32429951	32429951	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9807+1G>T	DMD	Pathogenic	X	31222077	31222077	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter)	DMD	Pathogenic	X	32482759	32482759	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004006.3(DMD):c.2195dup (p.His732fs)	DMD	Pathogenic	X	32536221	32536222	G	GT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)	DMD	Pathogenic	X	32366600	32366600	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)	DMD	Pathogenic	X	31676124	31676124	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.5390_5411del (p.Leu1797fs)	DMD	Pathogenic	X	32366560	32366581	CCCCTGCTGAATTTCAGCCTCCA	C	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.522_523del (p.His174fs)	DMD	Pathogenic	X	32834592	32834593	CTA	C	criteria provided, single submitter	-