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
Duplication	NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs)	TTN	Likely pathogenic	2	179435867	179435868	A	ATACTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657152
Duplication	NM_001267550.2(TTN):c.71202dup (p.Lys23735fs)	TTN	Pathogenic/Likely pathogenic	2	179439656	179439657	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA430257756
Deletion	NM_001267550.2(TTN):c.60902del (p.Ser20301fs)	TTN	Likely pathogenic	2	179455550	179455550	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657141
Deletion	NM_001267550.2(TTN):c.57849del (p.Val19284fs)	TTN	Likely pathogenic	2	179459372	179459372	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1992974
single nucleotide variant	NM_002880.4(RAF1):c.1556T>C (p.Met519Thr)	RAF1	Likely pathogenic	3	12626733	12626733	A	G	criteria provided, single submitter	ClinGen:CA351497922
single nucleotide variant	NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)	SCN5A	Pathogenic	3	38647549	38647549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014560,UniProtKB:Q14524#VAR_068329
single nucleotide variant	NM_000335.5(SCN5A):c.2204C>A (p.Ala735Glu)	SCN5A	Likely pathogenic	3	38639278	38639278	G	T	criteria provided, single submitter	ClinGen:CA015938,UniProtKB:Q14524#VAR_026360
single nucleotide variant	NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg)	SCN5A	Pathogenic/Likely pathogenic	3	38639228	38639228	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016002,UniProtKB:Q14524#VAR_026361
single nucleotide variant	NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38627529	38627529	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016173
single nucleotide variant	NM_000256.3(MYBPC3):c.2738-1G>A	MYBPC3	Likely pathogenic	11	47356761	47356761	C	T	criteria provided, single submitter	ClinGen:CA380316885