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_001018005.2(TPM1):c.479G>A (p.Arg160His)	TPM1	Pathogenic/Likely pathogenic	15	63351866	63351866	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018077,Leiden Muscular Dystrophy (TPM1):TPM1_00030
single nucleotide variant	NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	ABCC9	Pathogenic/Likely pathogenic	12	21995261	21995261	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260058,UniProtKB:O60706#VAR_068497,OMIM:601439.0004
single nucleotide variant	NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln)	ABCC9	Pathogenic	12	21995260	21995260	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260062,UniProtKB:O60706#VAR_068496,OMIM:601439.0005
single nucleotide variant	NM_020297.4(ABCC9):c.3347G>A (p.Arg1116His)	ABCC9	Pathogenic	12	21995374	21995374	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260083,UniProtKB:O60706#VAR_068495,OMIM:601439.0008
single nucleotide variant	NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)	ABCC9	Pathogenic/Likely pathogenic	12	21995375	21995375	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260087,UniProtKB:O60706#VAR_068494,OMIM:601439.0009
single nucleotide variant	NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105758	156105758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016426,OMIM:150330.0058
single nucleotide variant	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA	Pathogenic/Likely pathogenic	1	156106743	156106743	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017220,UniProtKB:P02545#VAR_070182
single nucleotide variant	NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	MYBPC3	Pathogenic/Likely pathogenic	11	47359280	47359280	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012147,UniProtKB:Q14896#VAR_029412
single nucleotide variant	NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)	MYBPC3	Pathogenic	11	47354447	47354447	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014095
single nucleotide variant	NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)	MYBPC3	Pathogenic	11	47367916	47367916	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016142