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_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)	TTN	Likely pathogenic	2	179400456	179400456	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349422586
single nucleotide variant	NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)	TTN	Likely pathogenic	2	179400770	179400770	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349424907
single nucleotide variant	NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)	TTN	Pathogenic/Likely pathogenic	2	179416930	179416930	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349509363
single nucleotide variant	NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)	TTN	Pathogenic/Likely pathogenic	2	179425091	179425091	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349548048
single nucleotide variant	NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)	TTN	Pathogenic/Likely pathogenic	2	179428202	179428202	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60986821
single nucleotide variant	NM_001267550.2(TTN):c.70763T>G (p.Leu23588Ter)	TTN	Likely pathogenic	2	179440096	179440096	A	C	criteria provided, single submitter	ClinGen:CA349661349
single nucleotide variant	NM_001267550.2(TTN):c.49700C>G (p.Ser16567Ter)	TTN	Likely pathogenic	2	179477748	179477748	G	C	criteria provided, single submitter	ClinGen:CA349601418
single nucleotide variant	NM_001267550.2(TTN):c.37906A>T (p.Lys12636Ter)	TTN	Pathogenic	2	179522462	179522462	T	A	criteria provided, single submitter	ClinGen:CA349481709
single nucleotide variant	NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val)	SCN5A	Pathogenic	3	38592561	38592561	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA019094,UniProtKB:Q14524#VAR_055211
single nucleotide variant	NM_000335.5(SCN5A):c.5354T>A (p.Leu1785Gln)	SCN5A	Likely pathogenic	3	38592506	38592506	A	T	criteria provided, single submitter	ClinGen:CA019153