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_004006.3(DMD):c.831+1G>T	DMD	Pathogenic	X	32717228	32717228	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter)	DMD	Pathogenic	X	32456506	32456506	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.95009del (p.Arg31670fs)	TTN	Likely pathogenic	2	179411049	179411049	TC	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs)	DMD	Pathogenic	X	32398685	32398686	CTT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.2129del (p.Lys710fs)	DMD	Pathogenic	X	32563315	32563315	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.911-1G>A	FKTN	Pathogenic/Likely pathogenic	9	108380239	108380239	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.6580G>T (p.Glu2194Ter)	DMD	Pathogenic	X	31986490	31986490	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3500C>G (p.Ser1167Ter)	DMD	Pathogenic	X	32472882	32472882	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.2556G>A (p.Trp852Ter)	DMD	Pathogenic	X	32509460	32509460	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.1062G>A (p.Trp354Ter)	DMD	Pathogenic	X	32663168	32663168	C	T	criteria provided, single submitter	-