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_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	MYH7	Pathogenic	14	23884860	23884860	C	T	reviewed by expert panel	ClinGen:CA015727
single nucleotide variant	NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	MYBPC3	Pathogenic	11	47356671	47356671	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013001,OMIM:600958.0023
single nucleotide variant	NM_000021.4(PSEN1):c.806G>A (p.Arg269His)	PSEN1	Pathogenic	14	73664775	73664775	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA225122,UniProtKB:P49768#VAR_006448
Deletion	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN	Pathogenic	2	179391826	179391826	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA309464
Deletion	NM_001289808.2(CRYAB):c.343del (p.Ser115fs)	CRYAB	Pathogenic/Likely pathogenic	11	111779673	111779673	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA308250
single nucleotide variant	NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro)	BAG3	Likely pathogenic	10	121436451	121436451	T	C	criteria provided, single submitter	ClinGen:CA261131,UniProtKB:O95817#VAR_066786,OMIM:603883.0008
single nucleotide variant	NM_001927.4(DES):c.1255C>T (p.Pro419Ser)	DES	Pathogenic/Likely pathogenic	2	220288509	220288509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017
single nucleotide variant	NM_002880.4(RAF1):c.418A>C (p.Asn140His)	RAF1	Likely pathogenic	3	12650737	12650737	T	G	criteria provided, single submitter	ClinGen:CA297148
single nucleotide variant	NM_002880.4(RAF1):c.483T>G (p.Asn161Lys)	RAF1	Likely pathogenic	3	12650363	12650363	A	C	criteria provided, single submitter	ClinGen:CA16040603
single nucleotide variant	NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)	RAF1	Pathogenic	3	12645701	12645701	C	A	reviewed by expert panel	ClinGen:CA261625,UniProtKB:P04049#VAR_037807