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.57300_57303dup (p.Ile19102Ter)	TTN	Likely pathogenic	2	179462505	179462506	T	TTCTA	criteria provided, single submitter	ClinGen:CA658796045
Deletion	NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs)	TTN	Likely pathogenic	2	179479275	179479278	TCTTA	T	criteria provided, single submitter	ClinGen:CA658796071
Deletion	NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs)	SCN5A	Pathogenic	3	38627386	38627387	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016300
single nucleotide variant	NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter)	RBM20	Likely pathogenic	10	112541383	112541383	G	A	criteria provided, single submitter	ClinGen:CA378385316
single nucleotide variant	NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)	LMNA	Pathogenic	1	156106909	156106909	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342822966
Deletion	NM_001103.4(ACTN2):c.1793del (p.Pro598fs)	ACTN2	Likely pathogenic	1	236914904	236914904	AC	A	criteria provided, single submitter	ClinGen:CA658795623
single nucleotide variant	NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)	TTN	Pathogenic	2	179416921	179416921	C	A	criteria provided, single submitter	ClinGen:CA349507301
Duplication	NM_001267550.2(TTN):c.78947dup (p.Ser26317fs)	TTN	Pathogenic	2	179431911	179431912	G	GC	criteria provided, single submitter	ClinGen:CA658796027
Duplication	NM_001267550.2(TTN):c.76904dup (p.Asn25635fs)	TTN	Pathogenic	2	179433954	179433955	A	AT	criteria provided, single submitter	ClinGen:CA658796028
Deletion	NM_001267550.2(TTN):c.72826del (p.Thr24276fs)	TTN	Pathogenic/Likely pathogenic	2	179438033	179438033	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796037