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.769T>C (p.Ser257Pro)	RAF1	Likely pathogenic	3	12645700	12645700	A	G	reviewed by expert panel	ClinGen:CA184835
single nucleotide variant	NM_002880.4(RAF1):c.788T>G (p.Val263Gly)	RAF1	Likely pathogenic	3	12645681	12645681	A	C	reviewed by expert panel	ClinGen:CA273745
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
Deletion	NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del)	MYBPC3	Likely pathogenic	11	47359008	47359016	ACGCGCATCT	A	criteria provided, single submitter	ClinGen:CA012493
single nucleotide variant	NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	MYH7	Likely pathogenic	14	23899016	23899016	C	T	reviewed by expert panel	ClinGen:CA010192
single nucleotide variant	NM_000257.4(MYH7):c.1220G>T (p.Gly407Val)	MYH7	Likely pathogenic	14	23898475	23898475	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010392,UniProtKB:P12883#VAR_042780
single nucleotide variant	NM_000257.4(MYH7):c.1318G>A (p.Val440Met)	MYH7	Likely pathogenic	14	23898253	23898253	C	T	reviewed by expert panel	ClinGen:CA010537,UniProtKB:P12883#VAR_042784
single nucleotide variant	NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	MYH7	Likely pathogenic	14	23898201	23898201	A	G	reviewed by expert panel	ClinGen:CA010654
single nucleotide variant	NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys)	MYH7	Likely pathogenic	14	23896891	23896891	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011255
single nucleotide variant	NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser)	MYH7	Likely pathogenic	14	23896884	23896884	G	A	criteria provided, single submitter	ClinGen:CA011279