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_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)	PSEN1	Likely pathogenic	14	73685869	73685869	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA225181,UniProtKB:P49768#VAR_006459,OMIM:104311.0014
single nucleotide variant	NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser)	PSEN1	Likely pathogenic	14	73664765	73664765	G	A	criteria provided, single submitter	ClinGen:CA127839,UniProtKB:P49768#VAR_016219,OMIM:104311.0022
single nucleotide variant	NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	PSEN1	Likely pathogenic	14	73637755	73637755	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224998,UniProtKB:P49768#VAR_016215,OMIM:104311.0023
single nucleotide variant	NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)	PSEN1	Likely pathogenic	14	73637671	73637671	T	C	criteria provided, single submitter	ClinGen:CA127841,OMIM:104311.0031
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
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_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_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_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