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	NM_004006.3(DMD):c.2111del (p.Pro704fs)	DMD	Pathogenic	X	32563333	32563333	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.100A>T (p.Lys34Ter)	DMD	Pathogenic	X	32867931	32867931	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)	TTN	Pathogenic	2	179439983	179439983	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)	DMD	Pathogenic/Likely pathogenic	X	32481630	32481630	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000335.5(SCN5A):c.3244del (p.Ser1082fs)	SCN5A	Pathogenic/Likely pathogenic	3	38620968	38620968	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617948
single nucleotide variant	NM_024664.4(PPCS):c.698A>T (p.Glu233Val)	PPCS	Pathogenic	1	42925359	42925359	A	T	criteria provided, single submitter	OMIM:609853.0001
single nucleotide variant	NM_004006.3(DMD):c.4486G>T (p.Glu1496Ter)	DMD	Pathogenic	X	32407650	32407650	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.8775G>A (p.Trp2925Ter)	DMD	Pathogenic	X	31496385	31496385	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter)	TTN	Likely pathogenic	2	179395919	179395920	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs)	DMD	Pathogenic	X	32361257	32361261	TTTTCC	T	criteria provided, multiple submitters, no conflicts	-