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_002880.4(RAF1):c.1279A>G (p.Ser427Gly)	RAF1	Pathogenic	3	12632388	12632388	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297127
single nucleotide variant	NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)	RAF1	Pathogenic/Likely pathogenic	3	12627293	12627293	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA297130
single nucleotide variant	NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)	RAF1	Pathogenic/Likely pathogenic	3	12627259	12627259	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261610,UniProtKB:P04049#VAR_037816
single nucleotide variant	NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)	CRYAB	Likely pathogenic	11	111782283	111782283	G	A	criteria provided, single submitter	ClinGen:CA130927,OMIM:123590.0010
single nucleotide variant	NM_000256.3(MYBPC3):c.1156G>T (p.Glu386Ter)	MYBPC3	Pathogenic	11	47365110	47365110	C	A	criteria provided, single submitter	ClinGen:CA009823
Deletion	NM_000256.3(MYBPC3):c.1168del (p.His390fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47365098	47365098	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009831
single nucleotide variant	NM_000256.3(MYBPC3):c.1224-2A>G	MYBPC3	Pathogenic	11	47364815	47364815	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009918
Deletion	NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)	MYBPC3	Pathogenic	11	47364687	47364688	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009961
single nucleotide variant	NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter)	MYBPC3	Pathogenic	11	47364650	47364650	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010005
Deletion	NM_000256.3(MYBPC3):c.1310del (p.Val437fs)	MYBPC3	Pathogenic	11	47364613	47364613	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010069