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.697A>G (p.Met233Val)	PSEN1	Pathogenic/Likely pathogenic	14	73659500	73659500	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341527
single nucleotide variant	NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)	RAF1	Pathogenic	3	12627244	12627244	G	A	reviewed by expert panel	ClinGen:CA261612,UniProtKB:P04049#VAR_037818
single nucleotide variant	NM_004006.3(DMD):c.9G>A (p.Trp3Ter)	DMD	Pathogenic	X	33229421	33229421	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259713,OMIM:300377.0086
single nucleotide variant	NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)	SDHA	Pathogenic/Likely pathogenic	5	251554	251554	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342723,UniProtKB:P31040#VAR_065975,OMIM:600857.0005
single nucleotide variant	NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	BAG3	Pathogenic/Likely pathogenic	10	121429549	121429549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259790,OMIM:603883.0004
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_001018005.2(TPM1):c.574G>A (p.Glu192Lys)	TPM1	Pathogenic/Likely pathogenic	15	63353922	63353922	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018196,UniProtKB:P09493#VAR_070121,Leiden Muscular Dystrophy (TPM1):TPM1_00013,OMIM:191010.0007
single nucleotide variant	NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)	TPM1	Pathogenic/Likely pathogenic	15	63354418	63354418	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018243,Leiden Muscular Dystrophy (TPM1):TPM1_00014
single nucleotide variant	NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)	TPM1	Pathogenic	15	63354462	63354462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018280,Leiden Muscular Dystrophy (TPM1):TPM1_00015