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
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_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_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_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.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.418A>C (p.Asn140His)	RAF1	Likely pathogenic	3	12650737	12650737	T	G	criteria provided, single submitter	ClinGen:CA297148
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_001018005.2(TPM1):c.539A>T (p.Glu180Val)	TPM1	Likely pathogenic	15	63353114	63353114	A	T	criteria provided, single submitter	ClinGen:CA019024,UniProtKB:P09493#VAR_029452,Leiden Muscular Dystrophy (TPM1):TPM1_00011
single nucleotide variant	NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)	TPM1	Likely pathogenic	15	63336295	63336295	G	C	criteria provided, single submitter	ClinGen:CA018692,Leiden Muscular Dystrophy (TPM1):TPM1_00004
single nucleotide variant	NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)	PSEN1	Likely pathogenic	14	73659452	73659452	G	C	criteria provided, single submitter	ClinGen:CA127843,OMIM:104311.0037