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_170707.4(LMNA):c.1620G>A (p.Met540Ile)	LMNA	Pathogenic	1	156107456	156107456	G	A	criteria provided, single submitter	ClinGen:CA017595
single nucleotide variant	NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)	PSEN1	Likely pathogenic	14	73683845	73683845	C	T	criteria provided, single submitter	ClinGen:CA150766,OMIM:104311.0039
single nucleotide variant	NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)	RAF1	Pathogenic/Likely pathogenic	3	12645687	12645687	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267618,UniProtKB:P04049#VAR_037813
single nucleotide variant	NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)	TTN	Likely pathogenic	2	179404186	179404186	C	G	criteria provided, single submitter	ClinGen:CA269799
single nucleotide variant	NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	TTN	Pathogenic	2	179410829	179410829	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA358820,OMIM:188840.0016
single nucleotide variant	NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)	TTN	Pathogenic	2	179410778	179410778	A	G	criteria provided, single submitter	ClinGen:CA358822
single nucleotide variant	NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	TTN	Pathogenic/Likely pathogenic	2	179410768	179410768	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358828
single nucleotide variant	NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn)	MYH7	Likely pathogenic	14	23893352	23893352	C	T	criteria provided, single submitter	ClinGen:CA012857
single nucleotide variant	NM_000257.4(MYH7):c.2163-1G>A	MYH7	Pathogenic	14	23895028	23895028	C	T	criteria provided, single submitter	ClinGen:CA011824
single nucleotide variant	NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	MYH7	Pathogenic/Likely pathogenic	14	23897714	23897714	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010981