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_000363.5(TNNI3):c.508C>T (p.Arg170Trp)	TNNI3	Pathogenic/Likely pathogenic	19	55665439	55665439	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021778
single nucleotide variant	NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	TNNI3	Pathogenic/Likely pathogenic	19	55665450	55665450	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021763,UniProtKB:P19429#VAR_029454
single nucleotide variant	NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)	ACTC1	Likely pathogenic	15	35083439	35083439	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019967
single nucleotide variant	NM_000363.5(TNNI3):c.611G>A (p.Arg204His)	TNNI3	Pathogenic/Likely pathogenic	19	55663224	55663224	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022060,UniProtKB:P19429#VAR_042746
single nucleotide variant	NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro)	TNNI3	Likely pathogenic	19	55663260	55663260	C	G	criteria provided, single submitter	ClinGen:CA021964
single nucleotide variant	NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr)	TNNI3	Likely pathogenic	19	55663267	55663267	C	A	criteria provided, single submitter	ClinGen:CA021939
single nucleotide variant	NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55665438	55665438	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021784
single nucleotide variant	NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)	DMD	Pathogenic	X	32503084	32503084	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273313
single nucleotide variant	NM_004006.3(DMD):c.2956C>T (p.Gln986Ter)	DMD	Pathogenic	X	32486821	32486821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273310
single nucleotide variant	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	FKTN	Pathogenic/Likely pathogenic	9	108366537	108366537	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA233995