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
copy number loss	GRCh37/hg19 Xp21.1(chrX:31853996-31855256)	DMD	Pathogenic	X	31853996	31855256	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:32235149-32459424)	DMD	Pathogenic	X	32235149	32459424	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 2q31.2(chr2:179403525-179655493)	TTN	Likely pathogenic	2	179403525	179655493	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:32466518-32928163)	DMD	Pathogenic	X	32466518	32928163	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:32587530-32719171)	DMD	Pathogenic	X	32587530	32719171	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)	PSEN1	Likely pathogenic	14	73640291	73640291	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.100887G>A (p.Trp33629Ter)	TTN	Likely pathogenic	2	179400455	179400455	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs)	TTN	Likely pathogenic	2	179415704	179415714	CTCTTGTCATAA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.87354del (p.Ala29119fs)	TTN	Likely pathogenic	2	179422727	179422727	CA	C	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.70745dup (p.Thr23583fs)	TTN	Likely pathogenic	2	179440113	179440114	G	GA	criteria provided, multiple submitters, no conflicts	-