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_004168.4(SDHA):c.151-1G>C	SDHA	Likely pathogenic	5	224474	224474	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA359008365
single nucleotide variant	NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)	SDHA	Pathogenic	5	226094	226094	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172876
Deletion	NM_004168.4(SDHA):c.1832del (p.Gln611fs)	SDHA	Likely pathogenic	5	254545	254545	CA	C	criteria provided, single submitter	ClinGen:CA658657414
Deletion	NM_004168.4(SDHA):c.558_567del (p.His187fs)	SDHA	Pathogenic	5	226097	226106	GGCCCATCGGT	G	criteria provided, single submitter	ClinGen:CA658657420
Deletion	NM_004168.4(SDHA):c.757_758del (p.Val253fs)	SDHA	Pathogenic/Likely pathogenic	5	228434	228435	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657422
single nucleotide variant	NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)	TTN	Likely pathogenic	2	179442512	179442512	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349671539
single nucleotide variant	NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met)	SCN5A	Pathogenic	3	38592576	38592576	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:Q14524#VAR_055209,ClinGen:CA019062
single nucleotide variant	NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	LMNA	Likely pathogenic	1	156106716	156106716	A	C	criteria provided, single submitter	ClinGen:CA342822406
single nucleotide variant	NM_170707.4(LMNA):c.3G>A (p.Met1Ile)	LMNA	Pathogenic	1	156084712	156084712	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342805841
single nucleotide variant	NM_001267550.2(TTN):c.100897C>T (p.Gln33633Ter)	TTN	Likely pathogenic	2	179400445	179400445	G	A	criteria provided, single submitter	ClinGen:CA349422531