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
Duplication	NM_004006.3(DMD):c.5697dup (p.Leu1900fs)	DMD	Pathogenic	X	32361292	32361293	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.1620G>A (p.Trp540Ter)	DMD	Pathogenic	X	32591946	32591946	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.776_777del (p.Lys259fs)	DMD	Pathogenic	X	32717283	32717284	CTT	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.56330_56334del (p.Met18777fs)	TTN	Likely pathogenic	2	179464294	179464298	GTCTCA	G	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.107644del (p.Ser35882fs)	TTN	Likely pathogenic	2	179392209	179392209	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.6649C>T (p.Gln2217Ter)	DMD	Pathogenic	X	31950310	31950310	G	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.73676_73694del (p.Arg24559fs)	TTN	Likely pathogenic	2	179437165	179437183	TGCTTTTCTTGTTGATTCCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter)	DMD	Pathogenic	X	32481614	32481614	G	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs)	SCN5A	Pathogenic	3	38628992	38628993	G	GTTGGAAA	criteria provided, single submitter	ClinGen:CA16617952
single nucleotide variant	NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38640511	38640511	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617953