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.6874G>T (p.Glu2292Ter)	DMD	Pathogenic	X	31947751	31947751	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.6276C>G (p.Tyr2092Ter)	DMD	Pathogenic	X	32305660	32305660	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3856G>T (p.Glu1286Ter)	DMD	Pathogenic	X	32459362	32459362	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1638G>A (p.Trp546Ter)	DMD	Pathogenic	X	32591928	32591928	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.92812dup (p.Arg30938fs)	TTN	Likely pathogenic	2	179413540	179413541	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1963C>A (p.Leu655Met)	MYH7	Pathogenic	14	23896067	23896067	G	T	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs)	MYBPC3	Likely pathogenic	11	47354194	47354195	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter)	MYBPC3	Likely pathogenic	11	47357551	47357551	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter)	MYBPC3	Likely pathogenic	11	47360098	47360098	G	A	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.1393dup (p.Val465fs)	MYBPC3	Likely pathogenic	11	47364444	47364445	A	AC	criteria provided, single submitter	-