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
Deletion	NC_000023.11:g.(?_32595737)_(32823850_?)del	DMD	Pathogenic	X	32613854	32841967	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32644112)_(32651077_?)del	DMD	Pathogenic	X	32662229	32669194	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9807+5G>A	DMD	Likely pathogenic	X	31222073	31222073	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)	DMD	Pathogenic	X	31366736	31366736	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.7252C>T (p.Gln2418Ter)	DMD	Pathogenic	X	31838149	31838149	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.7247T>A (p.Leu2416Ter)	DMD	Pathogenic	X	31838154	31838154	A	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.5487_5488del (p.Gly1831fs)	DMD	Pathogenic	X	32364158	32364159	CTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3020C>A (p.Ser1007Ter)	DMD	Pathogenic	X	32486757	32486757	G	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.1577del (p.Thr526fs)	DMD	Pathogenic	X	32613899	32613899	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.741C>A (p.Phe247Leu)	MYH7	Likely pathogenic	14	23900682	23900682	G	T	criteria provided, multiple submitters, no conflicts	-